Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.12
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Amyloidosis, Hereditary, Transthyretin-Related, 105210
- Familial Transthyretin Amyloidosis
Tags
|
Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Amyloidosis, hereditary, transthyretin-related 105210
Tags
|
Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.7
Signed off v.2.2
on 19 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- [Dystransthyretinemic hyperthyroxinemia], 145680
- DTTRH
Tags
|
Version 2.5
Signed off v.2.3
on 2 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Red
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Amyloidosis, hereditary, transthyretin-related 105210
Tags
|
Version 1.8
Signed off v.1.2
on 13 Feb 2020
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Amyloidosis, hereditary, transthyretin-related 105210
Tags
|
Version 1.6
Signed off v.1.5
on 20 Aug 2020
Component of the following Super Panels:
Sudden cardiac death
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.16
Signed off v.2.11
on 15 Oct 2020
Component of the following Super Panels:
Sudden cardiac death
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- London South GLH
- Expert Review Green
- Wessex and West Midlands GLH
- Expert list
- Emory Genetics Laboratory
Phenotypes
- Cardiac amyloidosis
- Amyloidosis, hereditary, transthyretin-related, 105210
Tags
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.67
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- Emory Genetics Laboratory
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Hereditary amyloidosis
- Amyloidosis, hereditary, transthyretin-related, 105210
- Familial amyloid polyneuropathy
- Carpal tunnel syndrome, familial, 115430
Tags
|
Version 1.10
Signed off v.1.2
on 27 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Carpal tunnel syndrome, familial, 115430
- Hereditary amyloidosis
- Amyloidosis, hereditary, transthyretin-related, 105210
- Familial amyloid polyneuropathy
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
- UKGTN
- Expert list
- Emory Genetics Laboratory
Phenotypes
- Amyloidosis, hereditary, transthyretin-related, 105210
- FAP
- Cardiomyopathy
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.737
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
|
Not set
|
Sources
- Victorian Clinical Genetics Services
|
Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 2.7
Signed off v.2.2
on 2 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Amyloidosis, hereditary, transthyretin-related 105210
- Carpal tunnel syndrome, familial 115430
- Dystransthyretinemic hyperthyroxinemia 145680
Tags
|
Version 1.18
Signed off v.1.4
on 19 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- South West GLH
- South West GLH
Phenotypes
|
Version 1.21
Signed off v.1.2
on 27 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Amyloidosis, hereditary, transthyretin-related, 105210
- FAP
- Cardiomyopathy
|
Version 1.43
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Carpal tunnel syndrome, familial, 115430
- Amyloidosis, hereditary, transthyretin-related, 105210
|