DVL1:Ensemblv90

dishevelled segment polarity protein 1
OMIM: 601365, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green DVL1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.244	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Literature Phenotypes Robinow syndrome, autosomal dominant 2 (MIM#616331)
Green DVL1 in Mendeliome Version 1.3802	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal dominant 2 (MIM#616331)
Green DVL1 in Osteopetrosis Level 2: Skeletal disorders Version 0.98	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Robinow syndrome, autosomal dominant 2, MIM# 616331
Green DVL1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Phenotypes Robinow syndrome, autosomal dominant 2, MIM# 616331
Green DVL1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes DRS2 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Green DVL1 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.80 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Expert Review Green UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Phenotypes Robinow syndrome, autosomal dominant 2, MIM# 616331
Green DVL1 in Fetal anomalies Version 1.482	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Robinow syndrome, autosomal dominant 2 (MIM#616331)
Green DVL1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Expert Review Green Phenotypes Robinow syndrome, autosomal dominant 2 (MIM#616331)
Green DVL1 in Osteopetrosis Level 2: Skeletal disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Robinow syndrome, autosomal dominant 2, MIM# 616331
Green DVL1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list NHS GMS Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Phenotypes Robinow syndrome, autosomal dominant 2, MIM# 616331
Green DVL1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes DRS2 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Green DVL1 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list NHS GMS Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Expert Review Green Expert list Phenotypes Robinow syndrome, autosomal dominant 2, MIM# 616331