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Intellectual disability syndromic and non-syndromic

Gene: TMCO1

Green List (high evidence)

TMCO1 (transmembrane and coiled-coil domains 1)
EnsemblGeneIds (GRCh38): ENSG00000143183
EnsemblGeneIds (GRCh37): ENSG00000143183
OMIM: 614123, Gene2Phenotype
TMCO1 is in 10 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established ID gene.
Created: 5 Oct 2023, 12:17 a.m. | Last Modified: 5 Oct 2023, 12:17 a.m.
Panel Version: 0.5508

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
obsolete cerebrofaciothoracic dysplasia MONDO:0008952

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980
  • cerebrofaciothoracic dysplasia MONDO:0008952
OMIM
614123
Clinvar variants
Variants in TMCO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmco1 has been classified as Green List (High Evidence).

5 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMCO1 were changed from to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980; cerebrofaciothoracic dysplasia MONDO:0008952

5 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMCO1 were set to

5 Oct 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMCO1 was added gene: TMCO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMCO1 was set to Unknown