Limb disorders
Gene: ZNF141EnsemblGeneIds (GRCh38): ENSG00000131127
EnsemblGeneIds (GRCh37): ENSG00000131127
OMIM: 194648, Gene2Phenotype
ZNF141 is in 1 panel
2 reviews
Eleanor Williams (Genomics England Curator)
Genomics England clinical team notes - Agree with red rating. Single report in one family/.Created: 9 Sep 2018, 7:56 p.m.
Ellen McDonagh (Genomics England Curator)
PMID: 23160277 - family report of a missense variant segregating with autosomal recessive postaxial polydactyly type A. Functional analysis was not carried out to confirm the effect of the missense. Not enough evidence at this time for this gene to be green - added the watchlist tag.Created: 7 Nov 2018, 1:26 p.m.
Comment on publications: PMID: one family described with a homozygous missense variant in this gene segregating with postaxial polydactyly type A.Created: 9 Apr 2018, 2:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Polydactyly, postaxial, type A6 615226; Polydactyly
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Other
- Phenotypes
-
- ?Polydactyly, postaxial, type A6 615226
- Polydactyly
- Tags
- OMIM
- 194648
- Clinvar variants
- Variants in ZNF141
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on publications: PMID:
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: znf141 has been classified as Red List (Low Evidence).
Added Tag
Eleanor Williams (Genomics England Curator)Tag watchlist tag was added to gene: ZNF141.
Added New Source, Set Phenotypes
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to ZNF141. Added phenotypes ?Polydactyly, postaxial, type A6 615226; Polydactyly for gene: ZNF141
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to ZNF141. Panel: Limb disorders Phenotypes for gene ZNF141 were set to ?Polydactyly, postaxial, type A6 615226, Polydactyly
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ZNF141 were set to 23160277
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ZNF141 were set to 23160277
Added New Source
Ellen McDonagh (Genomics England Curator)ZNF141 was added to Limb disorders panel. Sources: Other
Created
Ellen McDonagh (Genomics England Curator)ZNF141 was created by Ellen McDonagh