TMEM67:Ensemblv115

transmembrane protein 67
OMIM: 609884, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TMEM67 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 Nephronophthisis 11, MIM# 613550 COACH syndrome 1, MIM# 216360
Green TMEM67 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 6, MIM# 610688 Meckel syndrome 3, MIM# 607361
Green TMEM67 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 TMEM67 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 Nephronophthisis 11, MIM# 613550 Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361
Green TMEM67 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 6, 610688 (3)
Green TMEM67 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Meckel syndrome Joubert syndrome
Green TMEM67 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes COACH syndrome 1 MIM#216360 Joubert syndrome 6 MIM#610688 Meckel syndrome 3 MIM#607361 Nephronophthisis 11 MIM#613550
Green TMEM67 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes COACH syndrome 1 MIM#216360 Joubert syndrome 6 MIM#610688 Meckel syndrome 3 MIM#607361 Nephronophthisis 11 MIM#613550