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Prepair 1000+

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

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

A congenital disorder of glycosylation neurologic disorder characterized by severely delayed psychomotor development, impaired intellectual development, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase levels. >15 unrelated families reported.
Created: 30 Dec 2024, 4:01 a.m. | Last Modified: 30 Dec 2024, 4:01 a.m.
Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Dec 2024, 4:01 a.m.
Last Modified: 30 Dec 2024, 4:01 a.m.
Panel version: 1.978

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

17 Jan 2025, 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).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PGAP3 were changed from Hyperphosphatasia with mental retardation syndrome 4, 615716 (3) to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGAP3 were set to

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: PGAP3 was added gene: PGAP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)