GenTIGS

Lists of Rare Genetic Disorders

Diamond-Blackfan Anemia(Congenital hypoplastic anemia) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Blood 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	RPL11/6135	ribosomal protein L11	1p36.11	Chr1, NC_000001.11 (23691779..23696835)	5057 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	RPS26/6231	ribosomal protein S26	12q13.2	Chr12, NC_000012.12 (56041918..56044697)	2780 nt	4	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	RPS7/6201	ribosomal protein S7	2p25.3	Chr2, NC_000002.12 (3575260..3580920)	5661 nt	7	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	RPL5/6125	ribosomal protein L5	1p22.1	Chr1, NC_000001.11 (92831986..92841924)	9939 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	RPS10/6204	ribosomal protein S10	6p21.31	Chr6, NC_000006.12 (34417454..34426069, complement)	8616 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	RPS19/6223	ribosomal protein S19	19q13.2	Chr19, NC_000019.10 (41860255..41872925)	12671 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	RPS24/6229	ribosomal protein S24	10q22.3	Chr10, NC_000010.11 (78033863..78056806)	22944 nt	9	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
8	RPS17/6218	ribosomal protein S17	15q25.2	Chr15, NC_000015.10 (82536750..82540457, complement)	3708 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
9	RPL35A/6165	ribosomal protein L35a	3q29	Chr3, NC_000003.12 (197950190..197956610)	6421 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
10	RPL26/6154	ribosomal protein L26	17p13.1	Chr17, NC_000017.11 (8377516..8383193, complement)	5678 nt	4	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
11	RPL15/6138	ribosomal protein L15	3p24.2	Chr3, NC_000003.12 (23916545..23924631)	8087 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
12	RPS29/6235	ribosomal protein S29	14q21.3	Chr14, NC_000014.9 (49570988..49598710, complement)	27723 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
13	TSR2/90121	TSR2 ribosome maturation factor	Xp11.22	ChrX, NC_000023.11 (54440404..54448032)	7629 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
14	RPS28/6234	ribosomal protein S28	19p13.2	Chr19, NC_000019.10 (8321496..8323340)	1845 nt	4	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
15	RPS27/6232	ribosomal protein S27	1q21.3	Chr1, NC_000001.11 (153990762..153992155)	1394 nt	4	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
16	RPL27/6155	ribosomal protein L27	17q21.31	Chr17, NC_000017.11 (42998273..43002959)	4687 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
17	EPO/2056	erythropoietin	7q22.1	Chr7, NC_000007.14 (100720468..100723700)	3233 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
18	TP53/7157	tumor protein p53	17p13.1	Chr17, NC_000017.11 (7668421..7687490, complement)	19070 nt	11	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
19	RPS15A/6210	ribosomal protein S15a	16p12.3	Chr16, NC_000016.10 (18781295..18790334, complement)	9040 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
20	RPL18/6141	ribosomal protein L18	19q13.33	Chr19, NC_000019.10 (48615331..48619178, complement)	3848 nt	7	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
21	RPL35/11224	ribosomal protein L35	9q33.3	Chr9, NC_000009.12 (124857883..124861957, complement)	4075 nt	4	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
22	GATA1/2623	GATA binding protein 1	Xp11.23	ChrX, NC_000023.11 (48786590..48794311)	7722 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
23	RPS20/6224	ribosomal protein S20	8q12.1	Chr8, NC_000008.11 (56067254..56074506, complement)	7253 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
24	HEATR3/55027	HEAT repeat containing 3	16q12.1	Chr16, NC_000016.10 (50065970..50107272)	41303 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD

Reported Pathogenic variants

Patient care services

Clinical Symptoms & Disabilities