Clefting
Gene: PIGL
PIGL (phosphatidylinositol glycan anchor biosynthesis class L)
EnsemblGeneIds (GRCh38): ENSG00000108474
EnsemblGeneIds (GRCh37): ENSG00000108474
OMIM: 605947, Gene2Phenotype
PIGL is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000108474
EnsemblGeneIds (GRCh37): ENSG00000108474
OMIM: 605947, Gene2Phenotype
PIGL is in 11 panels
1 review
Olivia Niblock (Genomics England Curator)
Mutations (copy number variations) in this gene have been linked to Chime syndrome - a characteristic of this is cited to be cleft lip or palate. However, after literature search, only 1 case of orofacial clefting could be found where the patient had a PIGL mutation.Created: 31 May 2017, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
- CHIME
- OMIM
- 605947
- Clinvar variants
- Variants in PIGL
- Penetrance
- Complete
- Publications
- 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: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PIGL was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PIGL was created by ellenmcdonagh