TMEM67

transmembrane protein 67
OMIM: 609884
PanelMode of inheritanceDetails
12 panels
R-numbers: R107
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Bardet-Biedl syndrome 14, modifier of}, 615991
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS TYPE 11 613550, MECKEL SYNDROME TYPE 3 607361, COACH SYNDROM 216360, JOUBERT SYNDROME TYPE 6 610688
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME TYPE 6, MECKEL SYNDROME TYPE 3, COACH SYNDROM, NEPHRONOPHTHISIS TYPE 11
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome 216360, Joubert syndrome 6 610688, Meckel syndrome 3 607361, {Bardet-Biedl syndrome 14, modifier of} 615991, Polydactyly
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
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
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
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
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
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
R-numbers: R36
Signed-off version 1.3
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
R-numbers: R202
Signed-off version 1.3
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
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 6 610688, Nephronophthisis 11 613550, Meckel syndrome 3 607361, Ciliopathy genes associated with cystic kidney disease, {Bardet-Biedl syndrome 14, modifier of} 615991, COACH syndrome 216360