Coarse facial features including Coffin-Siris-like disorders

Gene: RET

Red List (low evidence)

RET (ret proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 29 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Unlikely to present with coarse facial features
Created: 24 Nov 2016, 9:37 a.m.

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

RET associated with several different phenotypes but coarse facial features only associated with MEN2B
Created: 8 Feb 2016, 1:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multiple endocrine neoplasia IIB, 162300

Publications

History Filter Activity

24 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

8 Feb 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

RET was created by alicegardham

8 Feb 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

RET was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN