Clefting
Gene: RAI1

RAI1 (retinoic acid induced 1)
EnsemblGeneIds (GRCh38): ENSG00000108557
EnsemblGeneIds (GRCh37): ENSG00000108557
OMIM: 607642, Gene2Phenotype
RAI1 is in 4 panels

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Clefting not a key feature. The few patients who have had a cleft have been caused by chromosome deletions with another putative cleft gene in the wider deletion
Created: 26 May 2017, 7:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SMITH-MAGENIS SYNDROME; SMS

Created: 26 May 2017, 7:17 a.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

SMITH-MAGENIS SYNDROME
SMS

OMIM

607642

Clinvar variants

Variants in RAI1

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

RAI1 was added to Cleftingpanel. Sources: Expert Review Red

26 May 2017, Gel status: 0

Created