Genomics England
GMS Panels
Panels
Genes and Entities

FAM177A1

family with sequence similarity 177 member A1
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FAM177A1-related neurodevelopmental disorder with macrocephaly, MONDO:0100038, Neurodevelopmental disorder with white matter abnormalities and gait disturbance, OMIM:621152
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with white matter abnormalities and gait disturbance, OMIM:621152