Genomics England
GMS Panels
Panels
Genes and Entities

RARB

retinoic acid receptor beta
OMIM: 180220
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 12, OMIM:615524, neurodevelopmental disorder, MONDO:0700092
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 12, 615524