Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.22
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- 610706
- Hearing loss panel
- Deafness, congenital with inner ear agenesis, microtia and microdontia, 610706
- labyrinthine aplasia, microdontia, microtia
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
Phenotypes
- congenital deafness with inner ear agenesis, microtia and microdontia
|
Version 3.87
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
- DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA 610706
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.36
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 Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- hearing loss
- #610706: Deafness, congenital with inner ear agenesis, microtia, and microdontia
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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 Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706
|