Genomics England
GMS Panels
Panels
Genes and Entities

RFX7

regulatory factor X7
OMIM: 612660
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities, MONDO:0957228, OMIM:620330.0
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, OMIM:620330