Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.22
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Bilateral Microtia
- 263750
- Postaxial acrofacial dystostosis (POADS)
- Miller syndrome, 263750
- Causes Miller syndrome with bilateral microtia
- syndromic features
- Miller syndrome
- postaxial acrofacial dysostosis
- raniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia)
- an abnormally small lower jaw (micrognathia)
- incomplete closure of the roof of the mouth (cleft palate)
- small, protruding, “cup-shaped” ears
- and/or absence of tissue (colobomas) from the lower eyelids
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.53
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Miller syndrome (postaxial acrofacial dysostosis) 263750
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
|
Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
|
Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- POSTAXIAL ACROFACIAL DYSOSTOSIS
|
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
- POSTAXIAL ACROFACIAL DYSOSTOSIS 263750
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.106
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- POSTAXIAL ACROFACIAL DYSOSTOSIS
- POADS = MILLER
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
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
- Miller syndrome OMIM: 126064
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
|