Genomics England
GMS Panels
Panels
Genes and Entities

WDR81

WD repeat domain 81
OMIM: 614218
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.40
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967, Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.26
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185, Congenital hydrocephalus 3 with brain anomalies, 617967
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cerebellar ataxia, intellectual disability and quadrupedal locomotion, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185