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Intellectual disability syndromic and non-syndromic

Gene: ZNF674

Red List (low evidence)

ZNF674 (zinc finger protein 674)
EnsemblGeneIds (GRCh38): ENSG00000251192
EnsemblGeneIds (GRCh37): ENSG00000251192
OMIM: 300573, Gene2Phenotype
ZNF674 is in 3 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID and Autism GCEP on 04/05/2021 - https://search.clinicalgenome.org/CCID:006588
Created: 20 May 2024, 4:10 a.m. | Last Modified: 20 May 2024, 4:10 a.m.
Panel Version: 0.5821

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

Phenotypes
X-linked intellectual disability MONDO:0100284

Publications

  • https://search.clinicalgenome.org/CCID:006588

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

PMID: 16385466
Paper describes gene deleted in case with learning disabilities, retinal dystrophy, and short stature. Analysis in 28 families with nonsyndromic X-linked mental retardation revealed a nonsense mutation, p.E118X, in ZNF674 in one family.

So currently limited evidence.
Created: 4 Dec 2019, 12:15 p.m. | Last Modified: 4 Dec 2019, 12:15 p.m.
Panel Version: 0.296

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

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Tags
disputed
OMIM
300573
Clinvar variants
Variants in ZNF674
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: ZNF674.

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf674 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: ZNF674 were set to

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: znf674 has been classified as Red List (Low Evidence).

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: znf674 has been classified as Amber List (Moderate Evidence).

4 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from ZNF674. Source Expert list was added to ZNF674. Mode of inheritance for gene ZNF674 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNF674 was added gene: ZNF674 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF674 was set to Unknown