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Prepair 1000+

Gene: PGAP2

Green List (high evidence)

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

1 review

Shakira Heerah (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong gene-disease association, multiple unrelated families reported severe intellectual disability.
Created: 30 Dec 2024, 3:27 a.m. | Last Modified: 30 Dec 2024, 3:29 a.m.
Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207
OMIM
615187
Clinvar variants
Variants in PGAP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pgap2 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) to Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGAP2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) for gene: PGAP2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PGAP2 was added gene: PGAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)