Autism
Gene: PACS1

PACS1 (phosphofurin acidic cluster sorting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000175115
EnsemblGeneIds (GRCh37): ENSG00000175115
OMIM: 607492, Gene2Phenotype
PACS1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple individuals reported with recurrent p.Arg203Trp variant; in vitro assays is suggestive of dominant-negative disease mechanism.
Created: 20 May 2020, 10:57 a.m. | Last Modified: 20 May 2020, 10:57 a.m.

Panel Version: 0.91

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schuurs-Hoeijmakers syndrome (MIM# 615009)

Publications

Created: 20 May 2020, 10:57 a.m.
Last Modified: 20 May 2020, 10:57 a.m.
Panel version: 0.91

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Schuurs-Hoeijmakers syndrome (MIM# 615009)

OMIM

607492

Clinvar variants

Variants in PACS1

Penetrance

None

Publications

Panels with this gene