Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Other
- Alder Hey - Erasmus MC
Phenotypes
- Waardenburg syndrome with Hirschsprung disease (WS4C), 613266
- PCWH syndrome, 609136 (includes Hirschsprung disease, long-segment)
- Waardenburg syndrome, type 4C, 613266
- Waardenburg Syndrome
- PCWH Syndrome
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Waardenburg syndrome, type 4C 613266
|
Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
- peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
|
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 Green
- Eligibility statement prior genetic testing
Phenotypes
- Vestibular/semicircular canal dysplasia
- PCWH syndrome
- Waardenburg syndrome, type 2E, with or without neurologic involvement
- Waardenburg syndrome, type 4C
|
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- PCWH, WAARDENBURG SYNDROME, TYPE 4C
- Waardenburg syndrome
- PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
- WS4C, WAARDENBURG SYNDROME, TYPE 2E
- WS2E
|
Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Other
- Literature
Phenotypes
- Waardenburg syndrome, type 4C 613266
|
Version 3.18
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
Phenotypes
- Waardenburg syndrome type 4C, OMIM:611584
- Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584
- congenital hypogonadotropic hypogonadism, MONDO:0015770
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
- PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
|
Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Waardenburg syndrome, type 4C 613266
|
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
- PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
- KALLMANN SYNDROME WITH DEAFNESS
- YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
- WAARDENBURG SYNDROME TYPE 4C
- WAARDENBURG SYNDROME TYPE 2E
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
Phenotypes
- Hirschsprung disease
- Waardenburg syndrome
- Peripheral demyelinating neuropathy
- central dysmyelination
|
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
- WAARDENBURG SYNDROME TYPE 2E 611584
- KALLMANN SYNDROME WITH DEAFNESS
- WAARDENBURG SYNDROME TYPE 4C 613266
- YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 601706
- PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
- South West GLH
- UKGTN
- Expert list
Phenotypes
- Waardenburg syndrome, type 4C, 613266
- PCWH syndrome, 609136
- Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584
- Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
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 Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Waardenburg syndrome, type 4C, 613266
- #609136:PCWH syndrome
- #611584:Waardenburg syndrome, type 2E, with or without neurologic involvement
|
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, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Waardenburg syndrome, type 4C, 613266Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584PCWH syndrome, 609136
- PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (PCWH)
|
Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- South West GLH
- UKGTN
- Expert list
- London North GLH
- NHS GMS
- London North GLH
- NHS GMS
- South West GLH
Phenotypes
- Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584
- Waardenburg syndrome, type 4C, 613266
- PCWH syndrome, 609136
- Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- PCWH syndrome, 609136
- Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584
- Waardenburg syndrome, type 4C, 613266
|
Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- PCWH syndrome, OMIM:609136
- Waardenburg syndrome, type 4C, OMIM:613266
|