Ductal plate malformation
Gene: ANKS6EnsemblGeneIds (GRCh38): ENSG00000165138
EnsemblGeneIds (GRCh37): ENSG00000165138
OMIM: 615370, Gene2Phenotype
ANKS6 is in 8 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Nephronophthisis 16
- Tags
- OMIM
- 615370
- Clinvar variants
- Variants in ANKS6
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ANKS6.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoted from red to amber as i
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to ANKS6. Rating Changed from Amber List (moderate evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ANKS6 was added gene: ANKS6 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Nephronophthisis 16