Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.3
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- oculo-cutaneous albinism
- Chediak-Higashi syndrome
- optic neuropathy with progressive vision loss
|
Version 1.21
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- oculo-cutaneous albinism
- Chediak-Higashi syndrome
- optic neuropathy with progressive vision loss
|
Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.68
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Parkinsonism
- albinism
- peripheral neuropathy
- Chediak-Higashi syndrome 214500
|
Level 2: Viral research
Version 1.73
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- Chediak-Higashi syndrome 214500
- Chediak Higashi syndrome
- Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction
- Diseases of Immune Dysregulation
|
Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
|
Version 1.9
Signed off v.1.4
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Chediak-Higashi syndrome
- CHEDIAK-HIGASHI SYNDROME
- CHS
|
Version 1.7
Signed off v.1.6
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
|
Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.156
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Chediak-Higashi syndrome (CHS)
|
Version 1.17
Signed off v.1.2
on 3 Mar 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Chediak-Higashi syndrome
- oculo-cutaneous albinism
- optic neuropathy with progressive vision loss
|
Version 2.392
Signed off v.2.1
on 24 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- Chediak-Higashi syndrome 214500
- Chediak Higashi syndrome
- Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction
- Diseases of Immune Dysregulation
Tags
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.219
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- spastic paraplegia
- Chediak-Higashi syndrome, 214500
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.29
Signed off v.2.2
on 19 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- Expert Review Red
- Literature
Phenotypes
- Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome lacking features of ocular albinism
|
Version 2.25
Signed off v.2.18
on 8 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Yorkshire and North East GLH
- Expert Review Amber
- NHS GMS
- London North GLH
- Literature
Phenotypes
- spastic paraplegia
- Chediak-Higashi syndrome, 214500
|
Version 1.19
Signed off v.1.2
on 3 Mar 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- North West GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 214500 Chediak-Higashi syndrome
|
Version 1.35
Signed off v.1.29
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
- Chediak-Higashi syndrome, 214500
|
Version 1.16
Signed off v.1.12
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Yorkshire and North East GLH
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- spastic paraplegia
- Chediak-Higashi syndrome, 214500
- Spastic paraplegia
|
Version 2.38
Signed off v.2.31
on 8 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Chediak-Higashi syndrome 214500
- peripheral neuropathy
- Parkinsonism
- albinism
- spastic paraplegia
|
Version 1.185
Signed off v.1.92
on 21 Aug 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
Version 2.18
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CHEDIAK-HIGASHI SYNDROME 214500
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Chediak-Higashi syndrome, 214500
- Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.274
Signed off v.2.2
on 13 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Wessex and West Midlands GLH
- NHS GMS
- Expert list
Phenotypes
- Chediak-Higashi syndrome 214500
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.740
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Gene2Phenotype confirmed gene with ID HPO
- Chediak-Higashi syndrome, 214500
|
Version 1.16
Signed off v.1.14
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- albinism
- peripheral neuropathy
- Chediak-Higashi syndrome 214500
- Parkinsonism
|
Version 1.21
Signed off v.1.2
on 27 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Chediak-Higashi syndrome, 214500
- Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
|
Version 1.43
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Chediak-Higashi syndrome, 214500
|