Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Clefting disorders

Gene: PIGL

Red List (low evidence)

PIGL (phosphatidylinositol glycan anchor biosynthesis class L)
EnsemblGeneIds (GRCh38): ENSG00000108474
EnsemblGeneIds (GRCh37): ENSG00000108474
OMIM: 605947, Gene2Phenotype
PIGL is in 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • CHIME
  • COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
OMIM
605947
Clinvar variants
Variants in PIGL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGL was added gene: PIGL was added to Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 28371479 Phenotypes for gene: PIGL were set to CHIME; COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME