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Intellectual disability syndromic and non-syndromic

Gene: PACS2

Green List (high evidence)

PACS2 (phosphofurin acidic cluster sorting protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179364
EnsemblGeneIds (GRCh37): ENSG00000179364
OMIM: 610423, Gene2Phenotype
PACS2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

14 unrelated individuals with heterozygous variants reported; variable DD/ID is a feature as well as a number of other neurological abnormalities hypotonia, wide-based gait, nystagmus, cortical visual impairment.
Created: 8 Dec 2019, 6:50 a.m. | Last Modified: 8 Dec 2019, 6:50 a.m.
Panel Version: 0.895

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 66, MIM#618067

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Epileptic encephalopathy, early infantile, 66, MIM#618067
OMIM
610423
Clinvar variants
Variants in PACS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pacs2 has been classified as Green List (High Evidence).

8 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PACS2 were changed from to Epileptic encephalopathy, early infantile, 66, MIM#618067

8 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PACS2 were set to

8 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PACS2 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: PACS2 was added gene: PACS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PACS2 was set to Unknown