Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Trichohepatoenteric syndrome 1 222470
Tags
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.74
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Trichohepatoenteric syndrome 1, 222470
- Early Onset Inflammatory Bowel Disease
- Inflammatory Bowel Disease (Very Early Onset)
- Trichohepatoenteric syndrome 1 222470
Tags
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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
- IUIS Classification February 2018
- A- or hypo-gammaglobulinaemia v1.25
- 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
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa
- Trichohepatoenteric syndrome 1, 222470
- Intrauterine growth retardation, woolly hair
- intractable diarrhoea in infancy requiring total parenteral nutrition
- Hypogammaglobulinaemia
- Predominantly Antibody Deficiencies
- facial dysmorphism
- immune dysfunction
- Trichohepatoenteric syndrome
Tags
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Version 3.3
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
- Other
- NHS GMS
Phenotypes
- Trichohepatoenteric syndrome 1, OMM:222470
Tags
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- 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
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Trichohepatoenteric syndrome 1, 222470
- Intrauterine growth retardation, woolly hair
- facial dysmorphism
- intractable diarrhoea in infancy requiring total parenteral nutrition
- Hypogammaglobulinaemia
- Trichohepatoenteric syndrome
- immune dysfunction
- Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa
- Predominantly Antibody Deficiencies
Tags
- early-onset
- new-gene-name
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Trichohepatoenteric syndrome 1 (Other metabolic disorders)
- Infantile enterocolitis & monogenic inflammatory bowel disease
Tags
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Trichohepatoenteric syndrome 1 (Other metabolic disorders)
Tags
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- TRICHOHEPATOENTERIC SYNDROME
Tags
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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
- TRICHOHEPATOENTERIC SYNDROME 222470
Tags
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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
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Trichohepatoenteric syndrome 1, 222470
Tags
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
Tags
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Version 1.182
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Trichohepatoenteric syndrome 1, 222470
Tags
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