Ductal plate malformation
Gene: TMEM107
TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 8 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Joubert syndrome 29 (617562)
- Meckel syndrome 13 (617562)
- Tags
- OMIM
- 616183
- Clinvar variants
- Variants in TMEM107
- Penetrance
- None
- 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)