Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Removed
- Other
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705
Tags
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Level 2: Viral research
Version 1.142
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- IUIS Classification December 2024
- IUIS Classification February 2018
- SCID v1.6
- London North GLH
- 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
- SCID v1.6
Phenotypes
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 (AR)
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, OMIM:618806 (AD)
- T-B+ SCID
- Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect
- Combined immunodeficiencies with associated or syndromic features
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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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
- SCID v1.6
Phenotypes
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 (AR)
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, OMIM:618806 (AD)
- T-B+ SCID
- Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect
- Combined immunodeficiencies with associated or syndromic features
Tags
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Version 3.164
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 Red
- PAGE DD-Gene2Phenotype
Phenotypes
- ALOPECIA AND T-CELL IMMUNODEFICIENCY
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705
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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
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705
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