Congenital Disorders of Glycosylation
Gene: PGAP2
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
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
Gene: pgap2 has been classified as Green List (High Evidence).
Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207
Publications for gene: PGAP2 were set to
Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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