Genomics England
GMS Panels
Panels
Genes and Entities

MAB21L2

mab-21 like 2
OMIM: 604357
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MICROPHTHALMIA, SYNDROMIC 14 615877
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MICROPHTHALMIA, SYNDROMIC 14
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MICROPHTHALMIA, SYNDROMIC 14, MCOPS14
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 14, 615877