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  2. Rare syndromic craniosynostosis or isolated multisuture synostosis
  3. SRCAP
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: SRCAP

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

One individual was described with a stop-gain variant in SRCAP (c.7303C>T; p.Arg2435Ter) in the Norwegian cohort (PMID:33288889).
Sources: Literature
Created: 23 Jul 2023, 7:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 23 Jul 2023, 7:32 p.m.

Panel version: 4.165

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
OMIM
611421
Clinvar variants
Variants in SRCAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SRCAP was added gene: SRCAP was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRCAP were set to 33288889; 36980886 Review for gene: SRCAP was set to RED