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Fetal anomalies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IUGR and multiple congenital anomalies.
Created: 23 Feb 2022, 10:45 p.m. | Last Modified: 23 Feb 2022, 10:45 p.m.
Panel Version: 0.4119

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Floating-Harbor syndrome, MIM# 136140

Created: 11 Jun 2021, 3:54 a.m.
Last Modified: 11 Jun 2021, 3:54 a.m.
Panel version: 0.4119

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS).

A cohort of 33 individuals with mostly de novo truncating variants both proximal and distal to the FLHS locus were found to have a distinct phenotype and DNA methylation pattern to FLHS, referred to by the authors as "non-FLHS SRCAP-related NDD".
Created: 7 Jun 2021, 5:24 a.m. | Last Modified: 7 Jun 2021, 5:25 a.m.
Panel Version: 0.3845

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

Phenotypes
Floating-Harbor syndrome MIM#136140

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Jun 2021, 5:24 a.m.
Last Modified: 7 Jun 2021, 5:25 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3845

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Floating-Harbor syndrome, MIM# 136140
OMIM
611421
Clinvar variants
Variants in SRCAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srcap has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRCAP were changed from FLOATING-HARBOR SYNDROME to Floating-Harbor syndrome, MIM# 136140

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SRCAP were set to

23 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SRCAP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRCAP was added gene: SRCAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME