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Intellectual disability syndromic and non-syndromic

Gene: PACS1

Green List (high evidence)

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, 10:52 a.m. | Last Modified: 20 May 2020, 10:52 a.m.
Panel Version: 0.2637

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schuurs-Hoeijmakers syndrome (MIM# 615009)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Schuurs-Hoeijmakers syndrome (MIM# 615009)
OMIM
607492
Clinvar variants
Variants in PACS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pacs1 has been classified as Green List (High Evidence).

20 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)

20 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PACS1 were set to

20 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PACS1 was added gene: PACS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PACS1 was set to Unknown