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Mendeliome

Gene: TOGARAM2

Red List (low evidence)

TOGARAM2 (TOG array regulator of axonemal microtubules 2)
EnsemblGeneIds (GRCh38): ENSG00000189350
EnsemblGeneIds (GRCh37): ENSG00000189350
TOGARAM2 is in 2 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

Paper reports one individual with bilateral profound hearing loss with a homozygous TOGARAM2 nonsense variant and demonstrated reduced mRNA expression in transfected cells.
Sources: Literature
Created: 7 Mar 2024, 12:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related
Clinvar variants
Variants in TOGARAM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: togaram2 has been classified as Red List (Low Evidence).

7 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: togaram2 has been classified as Red List (Low Evidence).

7 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: togaram2 has been classified as Red List (Low Evidence).

7 Mar 2024, Gel status: 0

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

Naomi Baker (Victorian Clinical Genetics Services)

gene: TOGARAM2 was added gene: TOGARAM2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TOGARAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM2 were set to PMID:38374469 Phenotypes for gene: TOGARAM2 were set to Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related Review for gene: TOGARAM2 was set to RED