WDR73

WD repeat domain 73
OMIM: 616144
PanelMode of inheritanceDetails
9 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300
R-numbers: R57
Signed-off version 2.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 1, 251300
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME, Galloway-Mowat syndrome 1, 251300
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 1, 251300
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat Syndrome 1, 251300, Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME, Galloway-Mowat syndrome 1, 251300
R-numbers: R195
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 1 #251300
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome, 251300
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 1 #251300