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  2. Joubert syndrome and other neurological ciliopathies
  3. TMEM107
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Joubert syndrome and other neurological ciliopathies

Gene: TMEM107

Amber List (moderate evidence)
TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 9 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Minimal reports to date. Left as amber for now pending additional reports. Bordeline amber/green

PMID: 26595381; Lambacher 2016: Reported hom (OFDVI female twins) and chet variants (JBTS male) in 2 families. All possesed JBTS-associated molar tooth sign

PMID: 26123494; Shaheen 2015: Same hom splice variant reported in 2 apparently unrelated families (counted as 1). Anaylsis of patient fibroblasts shows ciliogenesis defect.
Sources: Expert Review
Created: 13 May 2020, 2:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563)

Publications

Created: 13 May 2020, 2:48 a.m.

Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Meckel syndrome 13 (MIM#617562)
  • Orofaciodigital syndrome XVI (MIM#617563)
  • Joubert syndrome 29, MIM# 617562
OMIM
616183
Clinvar variants
Variants in TMEM107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 May 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM107 were changed from Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563) to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563); Joubert syndrome 29, MIM# 617562

14 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem107 has been classified as Amber List (Moderate Evidence).

14 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem107 has been classified as Amber List (Moderate Evidence).

13 May 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: TMEM107 was added gene: TMEM107 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to 26595381; 26123494 Phenotypes for gene: TMEM107 were set to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563) Review for gene: TMEM107 was set to AMBER