TMEM67

transmembrane protein 67
OMIM: 609884, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green TMEM67 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services 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 1.28	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361
Green TMEM67 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 Nephronophthisis 11, MIM# 613550 COACH syndrome 1, MIM# 216360
Green TMEM67 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	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green
Green TMEM67 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.26 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Nephronophthisis 11, MIM# 613550 Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361
Red TMEM67 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 Nephronophthisis 11, MIM# 613550 COACH syndrome 1, MIM# 216360
Green TMEM67 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 COACH syndrome 1, MIM# 216360
Red TMEM67 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Review Red UKGTN NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes COACH syndrome 216360 Meckel syndrome 3 607361 {Bardet-Biedl syndrome 14, modifier of} 615991 Joubert syndrome 6 610688
Green TMEM67 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 6, MIM# 610688
Green TMEM67 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 6, 610688 (3)
Green TMEM67 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Meckel syndrome Joubert syndrome
Green TMEM67 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361
Green TMEM67 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes COACH syndrome 1 MIM#216360 Joubert syndrome 6 MIM#610688 Meckel syndrome 3 MIM#607361 Nephronophthisis 11 MIM#613550
Red TMEM67 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes COACH syndrome MIM#216360 Joubert syndrome MIM#10688 Meckel syndrome MIM#607361 Nephronophthisis MIM#613550
Green TMEM67 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 6, 610688 (3)