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BabyScreen+ newborn screening

Gene: TTR

Red List (low evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Definitive gene disease association
Peripheral neuropathy, cardiomyopathy
Late childhood, mostly adult onset.
Clinical trials for therapy
Created: 7 Nov 2022, 5:55 a.m. | Last Modified: 7 Nov 2022, 5:55 a.m.
Panel Version: 0.802

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, hereditary, transthyretin-related MIM#105210

Publications

History Filter Activity

7 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttr has been classified as Red List (Low Evidence).

7 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TTR were changed from Amyloidosis, hereditary, transthyretin-related to Amyloidosis, hereditary, transthyretin-related MIM#105210

7 Nov 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TTR were set to

7 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttr has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TTR was added gene: TTR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related