Genomics England
GMS Panels
Panels
Genes and Entities

FRMD5

FERM domain containing 5
OMIM: 616309
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FRMD5-related developmental disorder
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094