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  2. Congenital Disorders of Glycosylation
  3. PGAP2
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Congenital Disorders of Glycosylation

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Created: 20 Dec 2020, 2:10 a.m. | Last Modified: 20 Dec 2020, 2:10 a.m.
Panel Version: 0.288

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 20 Dec 2020, 2:10 a.m.
Last Modified: 20 Dec 2020, 2:10 a.m.
Panel version: 0.291

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207 to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628

20 Dec 2020, 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).

20 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207

20 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGAP2 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: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PGAP2 was added gene: PGAP2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PGAP2 was set to Unknown