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BabyScreen+ newborn screening

Gene: TMC1

Green List (high evidence)

TMC1 (transmembrane channel like 1)
EnsemblGeneIds (GRCh38): ENSG00000165091
EnsemblGeneIds (GRCh37): ENSG00000165091
OMIM: 606706, Gene2Phenotype
TMC1 is in 5 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong gene disease evidence for AR deafness - congenital
AD phenotype of postlingual progressive later childhood onset hearing impairment
Enhances newborn hearing screening
Rx early intervention, hearing aids and CI's.
?Don't report single hits for AD phenotype.
Created: 19 Dec 2022, 3:13 a.m. | Last Modified: 19 Dec 2022, 3:13 a.m.
Panel Version: 0.1517

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 7 MIM#600974

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal recessive 7 MIM#600974
Tags
deafness
OMIM
606706
Clinvar variants
Variants in TMC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmc1 has been classified as Green List (High Evidence).

23 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deafness tag was added to gene: TMC1.

23 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMC1 were changed from Deafness to Deafness, autosomal recessive 7 MIM#600974

23 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMC1 were set to

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: TMC1 was added gene: TMC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC1 were set to Deafness