Structural eye disease
Gene: PORCN
Gisseman et al. 2016 published 14 unrelated cases with Focal Dermal Hypoplasia demonstrating an AMC phenotypeCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Focal dermal hypoplasia 305600
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Gisseman et al. 2016 published 14 unrelated cases with Focal Dermal Hypoplasia demonstrating an AMC phenotypeCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Focal dermal hypoplasia 305600
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to PORCN. Added phenotypes Focal dermal hypoplasia 305600 for gene: PORCN Publications for gene PORCN were changed from 17546030, 24859618 to 24859618; 17546030
gene: PORCN was added gene: PORCN was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PORCN were set to 17546030, 24859618 Phenotypes for gene: PORCN were set to Focal dermal hypoplasia 305600