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Gene: TMEM138

Green List (high evidence)
TMEM138 (transmembrane protein 138)
EnsemblGeneIds (GRCh38): ENSG00000149483
EnsemblGeneIds (GRCh37): ENSG00000149483
OMIM: 614459, Gene2Phenotype
TMEM138 is in 12 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).
MIM #614465
Created: 20 Jan 2025, 10:26 p.m. | Last Modified: 20 Jan 2025, 10:30 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 16

Publications

Created: 20 Jan 2025, 10:26 p.m.
Last Modified: 20 Jan 2025, 10:30 p.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 16, MIM#614465
OMIM
614459
Clinvar variants
Variants in TMEM138
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem138 has been classified as Green List (High Evidence).

24 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16, 614465 (3) to Joubert syndrome 16, MIM#614465

24 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM138 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Joubert syndrome 16, 614465 (3) for gene: TMEM138

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM138 was added gene: TMEM138 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM138 were set to Joubert syndrome 16, 614465 (3)