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Limb disorders

Gene: TMEM17

Amber List (moderate evidence)
TMEM17 (transmembrane protein 17)
EnsemblGeneIds (GRCh38): ENSG00000186889
EnsemblGeneIds (GRCh37): ENSG00000186889
OMIM: 614950, Gene2Phenotype
TMEM17 is in 5 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are at least 8 unrelated individuals (2 surviving individuals and 6 fetal cases) reported with biallelic TMEM17 variants and polydactyly. Hence, this gene should be promoted to Green on Limb disorders at the next update.
Created: 22 Apr 2026, 10:33 a.m. | Last Modified: 22 Apr 2026, 10:33 a.m.
Panel Version: 7.31
PMID: 26982032 Li et al., 2016
Homozygous missense mutation reported in TMEM17 (p.Asn102Lys) in two siblings (both male, 20 yrs and 36yrs old whose clinical profile is consistent with Oral-Facial-Digital type 6 syndrome. Both patients had polydactyly, psychomotor delay; cerebellar hypoplasia and molar tooth sign also noted on brain imaging (see S2 table). Fibroblasts from a TMEM17-mutated sibling displayed a much reduced ability to form cilia compared to cells from the healthy heterozygous mother.

PMID: 32055034 Shamseldin et al., 2020
Homozygous variant NM_198276:c.302G > T; p.Gly101Val detected in a child with Joubert syndrome.

PMID: 40841990 Boutaud et al., 2025
Report of two unrelated fetuses with occipital encephalocele, polydactyly, and kidney cysts. Exome sequencing identified a founder homozygous missense variant c.280C>T, p.(Arg94Trp) in TMEM17. Both diagnosed with Meckel syndrome (severe ciliopathy).

PMID: 41054827 Pardo et al., 2025
Four unrelated patients were identified with a clinical diagnosis of Meckel-Gruber syndrome (MGS) - a severe, lethal ciliopathy - and novel homozygous TMEM17 variants: NM_198276.3 c.4del p.(Glu2Serfs*58); c.366dup p.(Pro123Thrfs*9); and c.368C>G p.(Pro123Arg). Severe prenatal phenotype: encephalocele, polycystic kidney dysplasia, and polydactyly, leading to early lethality.

This gene is not yet associated with a phenotype in OMIM, G2P, or ClinGen (accessed 22nd Apr 2026).
Sources: Literature
Created: 22 Apr 2026, 10:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome, MONDO:0018921; orofaciodigital syndrome type 6, MONDO:0010176; Joubert syndrome, MONDO:0018772

Publications

Created: 22 Apr 2026, 10:31 a.m.

Panel version: 7.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Meckel syndrome, MONDO:0018921
  • orofaciodigital syndrome type 6, MONDO:0010176
  • Joubert syndrome, MONDO:0018772
Tags
Q2_26_promote_green
OMIM
614950
Clinvar variants
Variants in TMEM17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: tmem17 has been classified as Amber List (Moderate Evidence).

22 Apr 2026, Gel status: 1

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_26_promote_green tag was added to gene: TMEM17.

22 Apr 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: TMEM17 was added gene: TMEM17 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM17 were set to 26982032; 32055034; 40841990; 41054827 Phenotypes for gene: TMEM17 were set to Meckel syndrome, MONDO:0018921; orofaciodigital syndrome type 6, MONDO:0010176; Joubert syndrome, MONDO:0018772 Review for gene: TMEM17 was set to GREEN