TMEM216:Ensemblv115

transmembrane protein 216
OMIM: 613277, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red TMEM216 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Brain Malformations Flagship Victorian Clinical Genetics Services Expert Review Red Phenotypes Joubert syndrome 2 (MIM#608091)
Red TMEM216 in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Meckel syndrome 2, MIM# 603194
Green TMEM216 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 2, MIM# 608091 MONDO:0011963 Meckel syndrome 2, MIM# 603194 MONDO:0011296 Tags founder UTR
Green TMEM216 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 2, MIM# 608091 MONDO:0011963 Meckel syndrome 2, MIM# 603194 MONDO:0011296 Tags founder
Green TMEM216 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services
Green TMEM216 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services KidGen_CilioNephronop v38.1.0 Expert Review Green Phenotypes Joubert syndrome 2, MIM# 608091 Meckel syndrome 2, MIM# 603194
Green TMEM216 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Expert Review Green Phenotypes Joubert syndrome 2 MONDO:0011963
Green TMEM216 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Expert list NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Green Phenotypes Meckel syndrome 2 603194 Joubert syndrome 2 608091
Green TMEM216 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Retinitis pigmentosa, MONDO:0019200, TMEM216-related Tags UTR
Green TMEM216 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources RetNet Expert Review Green Phenotypes Joubert syndrome 2, MIM# 608091
Green TMEM216 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Joubert syndrome 2, 608091 (3)
Green TMEM216 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Joubert syndrome 2, MIM#608091 Meckel syndrome 2, MIM#603194 Retinitis pigmentosa 98, MIM#620996 ciliopathy MONDO:0005308
Green TMEM216 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Joubert syndrome 2, MIM#608091 Meckel syndrome 2, MIM#603194 Retinitis pigmentosa 98, MIM#620996 ciliopathy MONDO:0005308