Ductal plate malformation

Gene: TMEM107

No list

TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 10 panels

0 reviews


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • ?Joubert syndrome 29 (617562)
  • Meckel syndrome 13 (617562)
Clinvar variants
Variants in TMEM107
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: TMEM107.

30 Nov 2018, Gel status: 0

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Bill Griffiths: I have a patient with OFD1 and

12 Nov 2018, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to TMEM107. Rating Changed from Red List (low evidence) to No List (delete)

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TMEM107 was added gene: TMEM107 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29 (617562); Meckel syndrome 13 (617562)