GenTIGS

Lists of Rare Genetic Disorders

Joubert Syndrome Explore Disorder's Alias
An Autosomal recessive, X-linked dominant mode(s) within the Neurodevelopmental disorders category

Reported Pathogenic variants

Candidate Gene Information

S.No.	Name/GeneID	Description	Cytogentic Band	Gene Location on genomic DNA	Gene Length	Exons	Details	Gene Cross-References
1	TMEM216/51259	transmembrane protein 216	11q12.2	Chr11, NC_000011.10 (61392587..61398846)	6260 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	INPP5E/56623	inositol polyphosphate-5-phosphatase E	9q34.3	Chr9, NC_000009.12 (136428619..136439845, complement)	11227 nt	10	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	CC2D2A/57545	coiled-coil and C2 domain containing 2A	4p15.32	Chr4, NC_000004.12 (15469865..15601557)	131693 nt	40	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	RPGRIP1L/23322	RPGRIP1 like	16q12.2	Chr16, NC_000016.10 (53598153..53703859, complement)	105707 nt	36	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	CEP290/80184	centrosomal protein 290	12q21.32	Chr12, NC_000012.12 (88049016..88142088, complement)	93073 nt	60	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	TMEM67/91147	transmembrane protein 67	8q22.1	Chr8, NC_000008.11 (93754844..93832653)	77810 nt	35	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	ARL13B/200894	ADP ribosylation factor like GTPase 13B	3q11.2	Chr3, NC_000003.12 (93980155..94055678)	75524 nt	14	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
8	AHI1/54806	Abelson helper integration site 1	6q23.3	Chr6, NC_000006.12 (135283532..135497740, complement)	214209 nt	36	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
9	OFD1/8481	OFD1 centriole and centriolar satellite protein	Xp22.2	ChrX, NC_000023.11 (13714505..13773738)	59234 nt	27	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
10	TCTN1/79600	tectonic family member 1	12q24.11	Chr12, NC_000012.12 (110614129..110649430)	35302 nt	19	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
11	CEP41/95681	centrosomal protein 41	7q32.2	Chr7, NC_000007.14 (130393771..130441741, complement)	47971 nt	15	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
12	KIF7/374654	kinesin family member 7	15q26.1	Chr15, NC_000015.10 (89617309..89663049, complement)	45741 nt	21	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
13	TMEM237/65062	transmembrane protein 237	2q33.1	Chr2, NC_000002.12 (201620186..201643503, complement)	23318 nt	14	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
14	TMEM138/51524	transmembrane protein 138	11q12.2	Chr11, NC_000011.10 (61362374..61376870)	14497 nt	7	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
15	CPLANE1/65250	ciliogenesis and planar polarity effector complex subunit 1	5p13.2	Chr5, NC_000005.10 (37075669..37249376, complement)	173708 nt	55	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
16	TCTN3/26123	tectonic family member 3	10q24.1	Chr10, NC_000010.11 (95663401..95693927, complement)	30527 nt	14	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
17	ZNF423/23090	zinc finger protein 423	16q12.1	Chr16, NC_000016.10 (49487524..49859279, complement)	371756 nt	19	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
18	TMEM231/79583	transmembrane protein 231	16q23.1	Chr16, NC_000016.10 (75536741..75556286, complement)	19546 nt	7	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
19	CSPP1/79848	centrosome and spindle pole associated protein 1	8q13.2	Chr8, NC_000008.11 (67064368..67196614)	132247 nt	37	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
20	PDE6D/5147	phosphodiesterase 6D	2q37.1	Chr2, NC_000002.12 (231732433..231781282, complement)	48850 nt	7	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
21	KIAA0586/9786	KIAA0586	14q23.1	Chr14, NC_000014.9 (58427400..58562090)	134691 nt	40	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
22	TCTN2/79867	tectonic family member 2	12q24.31	Chr12, NC_000012.12 (123671113..123708399)	37287 nt	18	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
23	CEP104/9731	centrosomal protein 104	1p36.32	Chr1, NC_000001.11 (3812086..3857211, complement)	45126 nt	24	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
24	MKS1/54903	MKS transition zone complex subunit 1	17q22	Chr17, NC_000017.11 (58205441..58219255, complement)	13815 nt	19	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
25	B9D1/27077	B9 domain containing 1	17p11.2	Chr17, NC_000017.11 (19334695..19377913, complement)	43219 nt	13	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
26	LRRCC1/85444	leucine rich repeat and coiled-coil centrosomal protein 1	8q21.2	Chr8, NC_000008.11 (85107238..85146080)	38843 nt	20	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
27	NPHP1/4867	nephrocystin 1	2q13	Chr2, NC_000002.12 (110123348..110205013, complement)	81666 nt	23	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
28	SLC30A7/148867	solute carrier family 30 member 7	1p21.2	Chr1, NC_000001.11 (100896090..100996078)	99989 nt	14	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
29	MICALL2/79778	MICAL like 2	7p22.3	Chr7, NC_000007.14 (1434359..1459470, complement)	25112 nt	18	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
30	CEP120/153241	centrosomal protein 120	5q23.2	Chr5, NC_000005.10 (123344892..123423842, complement)	78951 nt	26	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
31	SUFU/51684	SUFU negative regulator of hedgehog signaling	10q24.32	Chr10, NC_000010.11 (102502819..102633535)	130717 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
32	PIBF1/10464	progesterone immunomodulatory binding factor 1	13q22.1	Chr13, NC_000013.11 (72782133..73016461)	234329 nt	22	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
33	KATNIP/23247	katanin interacting protein	16p12.1	Chr16, NC_000016.10 (27550144..27780344)	230201 nt	31	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
34	ARMC9/80210	armadillo repeat containing 9	2q37.1	Chr2, NC_000002.12 (231198631..231376848)	178218 nt	26	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
35	ARL3/403	ADP ribosylation factor like GTPase 3	10q24.32	Chr10, NC_000010.11 (102673731..102714397, complement)	40667 nt	7	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
36	FAM149B1/317662	family with sequence similarity 149 member B1	10q22.2	Chr10, NC_000010.11 (73168119..73244504)	76386 nt	18	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
37	TOGARAM1/23116	TOG array regulator of axonemal microtubules 1	14q21.2	Chr14, NC_000014.9 (44962190..45074431)	112242 nt	22	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
38	KIAA0753/9851	KIAA0753	17p13.1	Chr17, NC_000017.11 (6578147..6640711, complement)	62565 nt	24	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
39	IFT74/80173	intraflagellar transport 74	9p21.2	Chr9, NC_000009.12 (26947110..27066134)	119025 nt	23	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
40	NPHP3/27031	nephrocystin 3	3q22.1	Chr3, NC_000003.12 (132680609..132722409, complement)	41801 nt	27	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
41	TMEM218/219854	transmembrane protein 218	11q24.2	Chr11, NC_000011.10 (125094389..125111626, complement)	17238 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
42	KIF14/9928	kinesin family member 14	1q32.1	Chr1, NC_000001.11 (200551497..200620751, complement)	69255 nt	32	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
43	B9D2/80776	B9 domain containing 2	19q13.2	Chr19, NC_000019.10 (41354417..41364149, complement)	9733 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: GARD GTR MalaCards NORD

Patient care services

Clinical Symptoms & Disabilities

Prevalence

Under development