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Fetal anomalies

Gene: TMEM53

Red List (low evidence)

TMEM53 (transmembrane protein 53)
EnsemblGeneIds (GRCh38): ENSG00000126106
EnsemblGeneIds (GRCh37): ENSG00000126106
TMEM53 is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

33824347 Guo et al 2021 report 5 individuals from 4 unrelated Indian families with a sclerosing bone disorder. Authors report normal prenatal and early postnatal development.
Sources: Literature
Created: 24 Feb 2022, 9:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniotubular dysplasia, Ikegawa type - MIM#619727

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Craniotubular dysplasia, Ikegawa type - MIM#619727
Clinvar variants
Variants in TMEM53
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem53 has been classified as Red List (Low Evidence).

24 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem53 has been classified as Red List (Low Evidence).

24 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: TMEM53 was added gene: TMEM53 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM53 were set to 33824347 Phenotypes for gene: TMEM53 were set to Craniotubular dysplasia, Ikegawa type - MIM#619727 Review for gene: TMEM53 was set to RED