Version 1.17
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
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Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 3.11
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- Expert Review Amber
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
|