Silver Russell syndrome

Gene: CDKN1C

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that CDKN1C should be included on the panel. Therefore kept rating as Green.

Created: 30 May 2019, 9:34 a.m.

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: SRS/BWS.

Created: 14 May 2019, 1:25 p.m.

Phenotypes
SRS/BWS

Comment on list classification: This gene is being demoted to red as pathogenicity is caused by changes to methylation of this gene

Created: 8 Jun 2016, 2:27 p.m.

Comment when marking as ready: Associated with phenotype (614732) in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. At least 5 variants reported in the literature.

Created: 8 Jun 2016, 12:26 p.m.

Comment on mode of pathogenicity: GOF variants result in increased stability which could explain an increased activity of CDKN1C

Created: 8 Jun 2016, 12:22 p.m.

Green List (high evidence)

gain of function mutations in PCNA domain associated with IMAGe and SRS

Created: 7 Jun 2016, 2:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
SRS; IMAGe

Publications

• 24065356
• 22634751

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments