Version 1.1
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Klippel-Feil syndrome 1, autosomal dominant
- sacral agenesis
|
Version 1.10
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Klippel-Feil syndrome
- Klippel-Feil Syndrome
|
Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.25
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Bilateral Microtia
- Klippel-Feil syndrome 1, autosomal dominant 118100
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Klippel-Feil syndrome 1, autosomal dominant, 118100
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Klippel-Feil syndrome 1, autosomal dominant 118100
- Multiple synostoses syndrome type 4 - 617898.
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MICROPHTHALMIA ISOLATED TYPE 4
- KLIPPEL-FEIL SYNDROME TYPE 1
- Syndromic CAKUT
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- KLIPPEL-FEIL SYNDROME TYPE 1 118100
- MICROPHTHALMIA ISOLATED TYPE 4 613094
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Klippel-Feil syndrome 1, autosomal dominant, 118100
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Klippel-Feil syndrome 1, autosomal dominant, 118100
- Microphthalmia, isolated 4, 613094
- Microphthalmia with coloboma 6, digenic, 613703
- Leber congenital amaurosis 17, 615360
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Klippel-Feil syndrome 1, autosomal dominant, 118100
- Leber congenital amaurosis 17, 615360
- Microphthalmia with coloboma 6, digenic, 613703
- Microphthalmia, isolated 4, 613094
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Microphthalmia, isolated 4, 613094
- KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100
- Microphthalmia with coloboma 6, digenic (with GDF3), 613703
- Klippel-Feil syndrome 1, autosomal dominant, 118100
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Leber congenital amaurosis 17, 615360
- Multiple synostoses syndrome 4, 617898
- Microphthalmia, isolated 4, 613094
- Klippel-Feil syndrome 1, autosomal dominant, 118100
- Microphthalmia with coloboma 6, digenic, 613703
|