Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Barber-Say syndrome 209885
- Focal facial dermal dysplasia 3, Setleis type 227260
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
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
- Expert Review Removed
- NHS GMS
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Ablepharon-macrostomia syndrome 200110
- Barber-Say syndrome 209885
Tags
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Ablepharon-macrostomia syndrome, 200110
- Barber-Say syndrome, 209885
Tags
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Ablepharon-macrostomia syndrome
- Barber-Say syndrome
- Focal facial dermal dysplasia 3, Setleis type
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- SETLEIS SYNDROME, OMIM:227260
- ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- BARBER-SAY SYNDROME
- BBRSAY
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Barber-Say syndrome, 209885 (includes mental retardation in some patients)
- Focal facial dermal dysplasia 3, Setleis type, 227260 (can include intellectual disability and developmental delay)
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Ablepharon-macrostomia syndrome, 200110
- Focal facial dermal dysplasia 3, Setleis type, 227260
- Barber-Say syndrome, 209885
|