Coarse facial features including Coffin-Siris-like disorders

Gene: INSR

Red List (low evidence)

INSR (insulin receptor)
EnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 13 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Exclusion criteria include insulin resistance so not relevant for this panel
Created: 23 Nov 2016, 10:39 a.m.

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rabson-Mendenhall syndrome 262190, Donohue 246200

History Filter Activity

23 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

7 Feb 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

INSR was created by alicegardham

7 Feb 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

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