PORCN

porcupine O-acyltransferase
OMIM: 300651, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PORCN in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.43	1 review	Other	Sources Expert Review Green Expert list Phenotypes Focal dermal hypoplasia, MIM#305600
Green PORCN in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	1 review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Focal dermal hypoplasia, MIM# 305600
Green PORCN in Mendeliome Version 1.2302	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Focal dermal hypoplasia, MIM# 305600
Green PORCN in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green
Green PORCN in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PORCN in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Phenotypes focal dermal hypoplasia MONDO:0010592
Green PORCN in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Focal dermal hypoplasia, MIM# 305600
Green PORCN in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Focal dermal hypoplasia
Green PORCN in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory Phenotypes GOLTZ SYNDROME Focal dermal hypoplasia, 305600
Green PORCN in Mosaic skin disorders Level 2: Dermatological disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Focal dermal hypoplasia (MONDO:0010592 MIM#305600)
Green PORCN in Fetal anomalies Version 1.313	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Focal dermal hypoplasia, MIM# 305600
Red PORCN in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red BabySeq Category A gene Phenotypes Focal dermal hypoplasia, MIM#305600