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Intellectual disability syndromic and non-syndromic

Gene: PGAP3

Green List (high evidence)

PGAP3 (post-GPI attachment to proteins 3)
EnsemblGeneIds (GRCh38): ENSG00000161395
EnsemblGeneIds (GRCh37): ENSG00000161395
OMIM: 611801, Gene2Phenotype
PGAP3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with severe DD/ID, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase. More than 15 unrelated families reported.
Created: 20 Dec 2020, 2:37 a.m. | Last Modified: 20 Dec 2020, 2:37 a.m.
Panel Version: 0.3309

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
OMIM
611801
Clinvar variants
Variants in PGAP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pgap3 has been classified as Green List (High Evidence).

20 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PGAP3 were changed from to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

20 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGAP3 were set to 24439110; 29620724; 30345601; 30217754

20 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGAP3 were set to

20 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PGAP3 was added gene: PGAP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGAP3 was set to Unknown