Genomics England
GMS Panels
Panels
Genes and Entities

MAB21L1

mab-21 like 1
OMIM: 601280
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebello-Oculo-Facio-Genital syndrome
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
Global developmental delay, Intellectual disability, Cerebellar hypoplasia, Abnormality of the eye, Abnormality of the genital system, No OMIM number