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Limb disorders

Gene: ZNF141

Red List (low evidence)

ZNF141 (zinc finger protein 141)
EnsemblGeneIds (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)

Red List (low evidence)

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
watchlist
OMIM
194648
Clinvar variants
Variants in ZNF141
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on publications: PMID:

7 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: znf141 has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: ZNF141.

7 Nov 2018, Gel status: 1

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

13 Aug 2018, Gel status: 1

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

9 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ZNF141 were set to 23160277

9 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ZNF141 were set to 23160277

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF141 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ZNF141 was created by Ellen McDonagh