1. Panels
  2. Monogenic short stature
  3. SRCAP
STRs in panel
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Monogenic short stature

Gene: SRCAP

Green List (high evidence)
SRCAP (Snf2 related CREBBP activator protein)
EnsemblGeneIds (GRCh38): ENSG00000080603
EnsemblGeneIds (GRCh37): ENSG00000080603
OMIM: 611421, Gene2Phenotype
SRCAP is in 7 panels

2 reviews

Rebecca Foulger (Genomics England curator)

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 SRCAP should be included on the panel. Therefore kept rating as Green.
Created: 30 May 2019, 9:34 a.m.
Created: 30 May 2019, 9:34 a.m.

Copied from panel: Growth failure in early childhood v3.78

Ivone Leong (Genomics England Curator)

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

Phenotypes
Floating Harbor

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

Copied from panel: Growth failure in early childhood v3.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Floating-Harbor syndrome, OMIM:136140
OMIM
611421
Clinvar variants
Variants in SRCAP
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: SRCAP was added gene: SRCAP was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome, OMIM:136140