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  3. TMEM53
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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 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Red List (low evidence)

New skeletal dysplasia gene, not reviewed for any panel yet. Green on Australian skeletal dysplasia panel, red on FA.Nine families reported across six studies with Craniotubular Dysplasia, Ikegawa Type (CTDI) - childhood-onset short stature with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade. No prenatal or neonatal phenotype. PMID 33824347: Four families with biallelic loss of function variants and sclerosing bone disorder. Knockout mouse recapitulates human skeletal phenotype and does not have severe skeletal abnormalities at birth.PMID 39084544: Compound heterozygosity for c.62-23_92del and c.650C>T p.Ser217Leu in a patient with CTDI.PMID 39300972: Three siblings with intronic variants with CTDI plus additional cardiac and urogenital anomalies (unclear if additional features related to TMEM53).PMID 39901041: Homozygous c.704G>T p.R235L in two siblings (consanguineous parents) with CTDI.PMID 40680154: Homozygous c.634G>A p.E212K in a consanguineous family with CTDI. Variant creates a ubiquitination site resulting in complete absence of protein.PMID 40767825: Biallelic c.268G>C variant due to UPD1 in a patient with CTDI. For R104.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
craniotubular dysplasia, Ikegawa type, MONDO:0859226; Craniotubular dysplasia, Ikegawa type, OMIM:619727

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • craniotubular dysplasia, Ikegawa type, MONDO:0859226
  • Craniotubular dysplasia, Ikegawa type, OMIM:619727
Clinvar variants
Variants in TMEM53
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: TMEM53 was added gene: TMEM53 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM53 were set to 33824347; 39300972; 40767825; 40680154; 39084544; 39901041 Phenotypes for gene: TMEM53 were set to craniotubular dysplasia, Ikegawa type, MONDO:0859226; Craniotubular dysplasia, Ikegawa type, OMIM:619727