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  3. TMEM107
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Syndromic Retinopathy

Gene: TMEM107

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A set of twins and an unrelated case reported with retinopathy as a feature of the condition.
Sources: Expert list
Created: 25 May 2020, 6:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 29 MIM#617562; Orofaciodigital syndrome XVI MIM#617563

Publications

Created: 25 May 2020, 6:47 a.m.

Panel version: 0.63

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least four unrelated families reported with related ciliopathy phenotypes. Functional data, including mouse model.
Created: 14 May 2020, 6:41 a.m. | Last Modified: 14 May 2020, 6:41 a.m.
Panel Version: 0.2819

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563); Joubert syndrome 29 617562

Publications

Created: 14 May 2020, 6:41 a.m.
Last Modified: 14 May 2020, 6:41 a.m.
Panel version: Imported from Mendeliome panel version 0.2819

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: Imported from Mendeliome panel version Imported from Ciliopathies panel version Imported from Joubert syndrome and other neurological ciliopathies panel version 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 29 MIM#617562
  • Orofaciodigital syndrome XVI MIM#617563
OMIM
616183
Clinvar variants
Variants in TMEM107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM107 was added gene: TMEM107 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to 26595381 Phenotypes for gene: TMEM107 were set to Joubert syndrome 29 MIM#617562; Orofaciodigital syndrome XVI MIM#617563 Review for gene: TMEM107 was set to AMBER