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  3. ZNF41
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Intellectual disability syndromic and non-syndromic

Gene: ZNF41

Red List (low evidence)
ZNF41 (zinc finger protein 41)
EnsemblGeneIds (GRCh38): ENSG00000147124
EnsemblGeneIds (GRCh37): ENSG00000147124
OMIM: 314995, Gene2Phenotype
ZNF41 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID and Autism GCEP on 16/03/2021 - https://search.clinicalgenome.org/CCID:006585
Created: 20 May 2024, 4:02 a.m. | Last Modified: 20 May 2024, 4:02 a.m.
Panel Version: 0.5821

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

Phenotypes
non-syndromic X-linked intellectual disability MONDO:0019181

Publications

  • https://search.clinicalgenome.org/CCID:006585

Created: 20 May 2024, 4:02 a.m.
Last Modified: 20 May 2024, 4:02 a.m.
Panel version: 0.5821

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Screening of patients with mental retardation led to the identification of 2 other ZNF41 mutations that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.
Created: 4 Dec 2019, 12:28 p.m. | Last Modified: 4 Dec 2019, 12:29 p.m.
Panel Version: 0.302

Publications

Created: 4 Dec 2019, 12:28 p.m.
Last Modified: 4 Dec 2019, 12:29 p.m.
Panel version: 0.302

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • non-syndromic X-linked intellectual disability MONDO:0019181
Tags
disputed
OMIM
314995
Clinvar variants
Variants in ZNF41
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF41 were changed from to non-syndromic X-linked intellectual disability MONDO:0019181

20 May 2024, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZNF41 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 May 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: ZNF41.

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf41 has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF41 were set to

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: znf41 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNF41 was added gene: ZNF41 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF41 was set to Unknown