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Intellectual disability

Gene: ZNF41

Red List (low evidence)

ZNF41 (zinc finger protein 41)
EnsemblGeneIds (GRCh38): ENSG00000147124
EnsemblGeneIds (GRCh37): ENSG00000147124
OMIM: 314995, Gene2Phenotype
ZNF41 is in 1 panel

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

ZNF41 was previously associated with 'Mental retardation, X-linked 89 (MIM:300848) based on a 2003 study; PMID:14628291 (Shoichet et al) described a female patient with severe nonsyndromic ID and a de novo balanced translocation with disruption of the ZNF41 gene. However, Piton et al 2013 (PMID:23871722) question the involvement of ZNF41 in ID based on their findings of the Schoichet variants in a control cohort. There are no further ZNF41 ID reports at the time of curation, and therefore rated red.
Created: 31 Oct 2017, 9:25 a.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mental retardation, X-linked 89, 300848
  • Mental Retardation, X-linked
OMIM
314995
Clinvar variants
Variants in ZNF41
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ZNF41.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ZNF41 was set to ['26350204', ' 14628291', ' 23871722']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF41 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene ZNF41 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ZNF41 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF41 was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF41 was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen