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Severe Paediatric Disorders

Gene: SRCAP

Green List (high evidence)

SRCAP (Snf2 related CREBBP activator protein)
EnsemblGeneIds (GRCh38): ENSG00000080603
EnsemblGeneIds (GRCh37): ENSG00000080603
OMIM: 611421, Gene2Phenotype
SRCAP is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SRCAP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Floating-Harbor syndrome, 136140 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Floating-Harbor syndrome, 136140
OMIM
611421
Clinvar variants
Variants in SRCAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SRCAP were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SRCAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SRCAP.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SRCAP. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SRCAP was added gene: SRCAP was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SRCAP was set to