Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.19
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 #616546
|
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- Victorian Clinical Genetics Services
- Other
Phenotypes
- Short-rib thoracic dysplasia 14 with polydactyly 616546
- Polydactyly
- Joubert syndrome 23 616490
Tags
|
Version 1.28
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
Phenotypes
- Joubert syndrome 23 (616490)
Tags
|
Version 3.39
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Joubert syndrome 23
- Joubert syndrome
- Short-rib thoracic dysplasia 14 with polydactyly
- Short-rib dysplasia 14 with polydactyly
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
- SRTD14
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Joubert syndrome 23 616490
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Joubert syndrome 23, OMIM:616490
- Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
Tags
- Q4_23_promote_green
- Q4_23_NHS_review
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.169
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Other
- Expert Review Green
- Expert list
Phenotypes
- Joubert syndrome
- Short-rib dysplasia 14 with polydactyly
- Short-rib thoracic dysplasia 14 with polydactyly
- Joubert syndrome 23
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Other
Phenotypes
- Joubert syndrome 23
- Joubert syndrome
- Short-rib thoracic dysplasia 14 with polydactyly
- Short-rib dysplasia 14 with polydactyly
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.18
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Joubert syndrome 23
- Joubert syndrome
- Short-rib thoracic dysplasia 14 with polydactyly
- Short-rib dysplasia 14 with polydactyly
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Other
Phenotypes
- Joubert syndrome 23
- Joubert syndrome
- Short-rib thoracic dysplasia 14 with polydactyly
- Short-rib dysplasia 14 with polydactyly
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.21
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
- short-rib thoracic dysplasia 14 with polydactyly, MONDO:0014688
Tags
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Red
- London North GLH
Phenotypes
- Short-rib dysplasia 14 with polydactyly
- Short-rib thoracic dysplasia 14 with polydactyly
- Joubert syndrome 23
- Joubert syndrome
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 14 with polydactyly, 616546
- Joubert syndrome 23, 616490
|