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  3. SRCAP
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Growth failure

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Floating-Harbor syndrome is characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features (triangular face, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips). Numerous patients have been reported with heterozygous variants in SRCAP, with majority of variants located in exons 33 and 34.
Created: 17 Aug 2021, 10:31 p.m. | Last Modified: 17 Aug 2021, 10:31 p.m.
Panel Version: 0.168

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Floating-Harbor syndrome, OMIM # 136140

Publications

Created: 17 Aug 2021, 10:31 p.m.
Last Modified: 17 Aug 2021, 10:31 p.m.
Panel version: 0.168

Details

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

History Filter Activity

18 Aug 2021, 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).

18 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome, 136140; Floating Harbor to Floating-Harbor syndrome, OMIM # 136140

18 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SRCAP were set to

19 Jul 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 Growth failure in early childhood. Sources: Genomics England PanelApp,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, 136140; Floating Harbor