Genomics England
GMS Panels
Panels
Genes and Entities

ARF3

ADP ribosylation factor 3
OMIM: 103190
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARF3-related neurodevelopmental 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
R-numbers: R59
Signed-off version 6.9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, MONDO:0001071, Seizures, Morphological abnormality of the central nervous system, microcephaly, MONDO:0001149
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, MONDO:0001071, Seizures, Morphological abnormality of the central nervous system, microcephaly, MONDO:0001149
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 6.8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, MONDO:0001071, Seizures, Morphological abnormality of the central nervous system, microcephaly, MONDO:0001149