PITX1:Ensemblv90

paired like homeodomain 1
OMIM: 602149, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PITX1 in Mendeliome Version 1.3802	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520 Clubfoot, MONDO:0007342 Liebenberg syndrome, OMIM:186550 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800
Green PITX1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.297 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green
Green PITX1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PITX1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Liebenberg syndrome 186550 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
Green PITX1 in Fetal anomalies Version 1.482	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520 Clubfoot, MONDO:0007342 Liebenberg syndrome, OMIM:186550 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800
Green PITX1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services
Green PITX1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green PITX1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Expert list NHS GMS Radboud University Medical Center, Nijmegen Expert Review Green UKGTN Expert Review Green Phenotypes Liebenberg syndrome 186550 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800