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  3. PGAP2
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Genetic Epilepsy

Gene: PGAP2

Amber List (moderate evidence)
PGAP2 (post-GPI attachment to proteins 2)
EnsemblGeneIds (GRCh38): ENSG00000148985
EnsemblGeneIds (GRCh37): ENSG00000148985
OMIM: 615187, Gene2Phenotype
PGAP2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Bi-allelic variants in this gene are typically associated with severe DD/ID, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase, although presentations with milder ID have also been reported. More than 10 unrelated families reported.

Although HPMRS disorders are frequently associated with seizures, this seems a less frequently reported feature associated with variants in this gene.
Sources: Expert Review
Created: 20 Dec 2020, 2:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628

Publications

Created: 20 Dec 2020, 2:22 a.m.

Panel version: 0.973

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
OMIM
615187
Clinvar variants
Variants in PGAP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pgap2 has been classified as Amber List (Moderate Evidence).

20 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pgap2 has been classified as Amber List (Moderate Evidence).

20 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PGAP2 was added gene: PGAP2 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP2 were set to 23561846; 23561847; 31805394; 29119105; 27871432 Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Review for gene: PGAP2 was set to AMBER