ARL6

ADP ribosylation factor like GTPase 6
OMIM: 608845
PanelMode of inheritanceDetails
11 panels
R-numbers: R107
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Retinitis pigmentosa 55, 613575, {Bardet Biedl syndrome 1, modifier of}, 209900, Bardet Biedl syndrome 3, 600151
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RETINITIS PIGMENTOSA TYPE 55 613575, BARDET-BIEDL SYNDROME TYPE 3 209900
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 3, RETINITIS PIGMENTOSA TYPE 55
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 3, 209900{Bardet-Biedl syndrome 1, modifier of}, 209900Retinitis pigmentosa 55, 613575, BARDET-BIEDL SYNDROME TYPE 3 (BBS3)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 3 600151
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Bardet Biedl syndrome 1, modifier of}, Bardet-Biedl Syndrome, 268000, Bardet Biedl syndrome 3
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Bardet Biedl syndrome 1, modifier of}, Bardet-Biedl Syndrome, 268000, Bardet Biedl syndrome 3
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Bardet-Biedl syndrome 3, 209900, {Bardet-Biedl syndrome 1, modifier of}, 209900, Retinitis pigmentosa 55, 613575, Retinitis Pigmentosa, Recessive
R-numbers: R149
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity, Bardet-Biedl syndrome 3, OMIM:600151
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 3 600151
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Bardel-Biedl syndrome type 3 600151