Polydactyly
Gene: TMEM107

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least four unrelated families with polydactyly as a feature of the condition and a supporting null mouse model.
Sources: Expert list
Created: 22 Sep 2021, 1:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Sep 2021, 1:13 a.m.

Panel version: 0.239

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Meckel syndrome 13 MIM#617562
Orofaciodigital syndrome XVI MIM#617563

OMIM

616183

Clinvar variants

Variants in TMEM107

Penetrance

None

Publications

Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmem107 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 1

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