TTC8

tetratricopeptide repeat domain 8
OMIM: 608132
PanelMode of inheritanceDetails
11 panels
R-numbers: R107
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 8, 615985
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 8 209900, RETINITIS PIGMENTOSA TYPE 51 613464
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RETINITIS PIGMENTOSA TYPE 51, BARDET-BIEDL SYNDROME TYPE 8
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
Bardet-Biedl syndrome 8, 209900Retinitis pigmentosa 51, 613464, RETINITIS PIGMENTOSA TYPE 51 (RP51)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 8, 615985
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet Biedl syndrome 8
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
Bardet Biedl syndrome 8
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Bardet-Biedl syndrome 8, 209900, Retinitis pigmentosa 51, 613464, Retinitis Pigmentosa, Recessive, Retinitis pigmentosa, ?Retinitis pigmentosa 51
R-numbers: R149
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity, Bardet-Biedl syndrome 8, 615985, Bardet-Biedl syndrome 8
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 8, 615985
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome 8 615985