Genomics England

TMEM67

transmembrane protein 67

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Bardet Biedl syndrome R-numbers: R107 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes {Bardet-Biedl syndrome 14, modifier of}, 615991
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease - Unexplained young onset end-stage renal disease Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ciliopathy genes associated with cystic kidney disease
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEPHRONOPHTHISIS TYPE 11 613550, MECKEL SYNDROME TYPE 3 607361, COACH SYNDROM 216360, JOUBERT SYNDROME TYPE 6 610688
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME TYPE 6, MECKEL SYNDROME TYPE 3, COACH SYNDROM, NEPHRONOPHTHISIS TYPE 11
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550, COACH SYNDROME(COACHS)
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 6.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COACH syndrome 216360, Joubert syndrome 6 610688, Meckel syndrome 3 607361, {Bardet-Biedl syndrome 14, modifier of} 615991, Polydactyly
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome, nephronophthisis, COACH syndrome, Joubert syndrome 6, ?Bardet-Biedl syndrome?, Senior-Boichis syndrome, 613550, 607361, Meckel-Gruber syndrome, Meckel syndrome, 610688, Nephronophthisis 11, 216360
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome, nephronophthisis, COACH syndrome, Joubert syndrome 6, ?Bardet-Biedl syndrome?, Senior-Boichis syndrome, 613550, 607361, Meckel-Gruber syndrome, Meckel syndrome, 610688, Nephronophthisis 11, 216360
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome, nephronophthisis, COACH syndrome, Joubert syndrome 6, ?Bardet-Biedl syndrome?, Senior-Boichis syndrome, 613550, 607361, Meckel-Gruber syndrome, Meckel syndrome, 610688, Nephronophthisis 11, 216360
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COACH syndrome, 216360, Joubert syndrome 6, 610688, {Bardet-Biedl syndrome 14, modifer of}, 615991, Meckel syndrome 3, 607361, COACH syndrome, 216360, Nephronophthisis 11, 613550
Green in Tubulointerstitial kidney disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R202 Signed-off version 3.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?RHYNS syndrome MIM 602152, COACH syndrome 216360 AR 3, {Bardet-Biedl syndrome 14, modifier of} MIM 615991, ?RHYNS syndrome 602152 AR 3, COACH syndrome, MIM 216306, Joubert syndrome 6, MIM 610688, Nephronopthisis 11 MIM 613550, Meckel syndrome 3, MIM 607361