Gene Symbol:
SRCAP
HGNC:16974
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p11.2
Filters:

Definitive classifications

Floating-Harbor syndrome
Submitted as: OMIM:136140
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Floating-Harbor syndrome
Submitted as: OMIM:136140
AD
05/20/2016
Evaluated
09/28/2021
Submitted
developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Submitted as: OMIM:619595
AD
05/11/2022
Evaluated
08/19/2023
Submitted
Floating-Harbor syndrome
AD
08/01/2023
Evaluated
04/21/2024
Submitted

Strong classifications

developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Submitted as: OMIM:619595
AD
06/22/2023
Evaluated
11/30/2023
Submitted
Floating-Harbor syndrome
Submitted as: OMIM:136140
AD
05/06/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

Floating-Harbor syndrome
Submitted as: Orphanet:2044
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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