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  2. Clefting
  3. PGAP2
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Clefting

Gene: PGAP2

Red List (low evidence)
PGAP2 (post-GPI attachment to proteins 2)
EnsemblGeneIds (GRCh38): ENSG00000148985
EnsemblGeneIds (GRCh37): ENSG00000148985
OMIM: 615187, Gene2Phenotype
PGAP2 is in 8 panels

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Linked to Hyperphosphatasia with mental retardation syndrome 3, however after reviewing clinical synopsis and literature review, no description of clefting phenotypes
Created: 31 May 2017, 3:30 p.m.

Mode of inheritance
Unknown

Phenotypes
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

Created: 31 May 2017, 3:30 p.m.

Panel version: 0.328

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
  • HPMRS3
OMIM
615187
Clinvar variants
Variants in PGAP2
Penetrance
Complete
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PGAP2 was created by ellenmcdonagh

31 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PGAP2 was added to Cleftingpanel. Sources: Expert Review Red