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  3. TMEM5
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Arthrogryposis

Gene: TMEM5

Red List (low evidence)
TMEM5 (transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 14 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Arthrogryposis not reported
Created: 22 Mar 2023, 10:56 p.m. | Last Modified: 22 Mar 2023, 10:56 p.m.
Panel Version: 0.363
Created: 22 Mar 2023, 10:56 p.m.
Last Modified: 22 Mar 2023, 10:56 p.m.
Panel version: 0.363

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
OMIM
605862
Clinvar variants
Variants in TMEM5
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem5 has been classified as Red List (Low Evidence).

23 Mar 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041

23 Mar 2023, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tmem5 has been classified as Red List (Low Evidence).

22 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tmem5 has been classified as Red List (Low Evidence).

22 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tmem5 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM5 was added gene: TMEM5 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM5 was set to Unknown