Genomics England
GMS Panels
Panels
Genes and Entities

MFSD2A

major facilitator superfamily domain containing 2A
OMIM: 614397
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 15, primary, autosomal recessive, 616486
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486