Level 2: Viral research
Version 1.141
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification February 2018
- IUIS Classification December 2019
- IUIS Classification February 2018
Phenotypes
- Infantile liver failure syndrome 2, 616483
- Defects in intrinsic and innate immunity
- Fever induced liver failure
- Defects in Intrinsic and Innate Immunity
- Fever induces liver failure
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Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Infantile liver failure syndrome 2, OMIM:616483
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- IUIS Classification December 2019
- Expert Review Red
- IUIS Classification February 2018
Phenotypes
- Defects in Intrinsic and Innate Immunity
- Infantile liver failure syndrome 2, 616483
- Fever induces liver failure
- Fever induced liver failure
- Defects in intrinsic and innate immunity
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.24
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Radboud University Medical Center, Nijmegen
Phenotypes
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
- bone fragility
- immunodeficiency
- developmental delay
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
- ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
- SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483
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Version 3.87
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- RetNet
Phenotypes
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800
- short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889
Tags
- Q3_23_promote_green
- Q3_23_NHS_review
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Version 1.182
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Infantile liver failure syndrome 2, 616483
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
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