GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Galloway-Mowat Syndrome(Galloway syndrome)      Explore Disorder's Alias
An Autosomal recessive, X-linked dominant mode(s) within the Nephrological 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 WDR73/84942 WD repeat domain 73 15q25.2 Chr15, NC_000015.10
(84639285..84654283, complement)
14999 nt 9 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 WDR4/10785 WD repeat domain 4 21q22.3 Chr21, NC_000021.9
(42843094..42892998, complement)
49905 nt 14 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 LAGE3/8270 L antigen family member 3 Xq28 ChrX, NC_000023.11
(154477775..154479281, complement)
1507 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 TP53RK/112858 TP53 regulating kinase 20q13.12 Chr20, NC_000020.11
(46684365..46689444, complement)
5080 nt 2 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 TPRKB/51002 TP53RK binding protein 2p13.1 Chr2, NC_000002.12
(73729873..73737345, complement)
7473 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 OSGEP/55644 O-sialoglycoprotein endopeptidase 14q11.2 Chr14, NC_000014.9
(20446401..20454812, complement)
8412 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

7 NUP133/55746 nucleoporin 133 1q42.13 Chr1, NC_000001.11
(229440259..229508341, complement)
68083 nt 26 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

8 NUP107/57122 nucleoporin 107 12q15 Chr12, NC_000012.12
(68686978..68745809)
58832 nt 28 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

9 GON7/84520 GON7 subunit of KEOPS complex 14q32.12 Chr14, NC_000014.9
(93202894..93207065, complement)
4172 nt 2 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

10 YRDC/79693 yrdC N6-threonylcarbamoyltransferase domain containing 1p34.3 Chr1, NC_000001.11
(37802945..37808208, complement)
5264 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