Macrocephaly_Megalencephaly
Gene: PTCH2

PTCH2 (patched 2)
EnsemblGeneIds (GRCh38): ENSG00000117425
EnsemblGeneIds (GRCh37): ENSG00000117425
OMIM: 603673, Gene2Phenotype
PTCH2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gene disease association not established.

- Single missense reported in OMIM to result in a loss of function Fan et al. (2008) (PMID: 18285427)
-Another report of LoF variant by Fujii et al 2013 (PMID: 23479190)
- Pathogenicity of earlier reported LoF type variants has since been questioned due to high population frequency and identification of a homozygous individual (PMID: 30820324).
Created: 28 Feb 2020, 7:39 a.m. | Last Modified: 28 Feb 2020, 7:39 a.m.

Panel Version: 0.23

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal cell nevus syndrome, 109400

Publications

Created: 28 Feb 2020, 7:39 a.m.
Last Modified: 28 Feb 2020, 7:39 a.m.
Panel version: 0.23

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Basal cell nevus syndrome, MIM#109400

OMIM

603673

Clinvar variants

Variants in PTCH2

Penetrance

None

Publications

Panels with this gene