1. Panels
  2. Intellectual disability syndromic and non-syndromic
  3. ZC3H14
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Intellectual disability syndromic and non-syndromic

Gene: ZC3H14

Amber List (moderate evidence)
ZC3H14 (zinc finger CCCH-type containing 14)
EnsemblGeneIds (GRCh38): ENSG00000100722
EnsemblGeneIds (GRCh37): ENSG00000100722
OMIM: 613279, Gene2Phenotype
ZC3H14 is in 2 panels

4 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mouse model, borderline Amber/Green.
Created: 9 Jul 2021, 5:31 a.m. | Last Modified: 9 Jul 2021, 5:31 a.m.
Panel Version: 0.3969

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 9 Jul 2021, 5:31 a.m.
Last Modified: 9 Jul 2021, 5:31 a.m.
Panel version: 0.3969

Seb Lunke (Victorian Clinical Genetics Services)

I don't know

Splice variant in finish fam is c.1177 + 9 T > C with no evidence of mis-splicing provided or predicted. Agree stays amber.
Created: 8 Jul 2021, 3:36 a.m. | Last Modified: 8 Jul 2021, 3:36 a.m.
Panel Version: 0.3943
Created: 8 Jul 2021, 3:36 a.m.
Last Modified: 8 Jul 2021, 3:36 a.m.
Panel version: 0.3943

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 21734151
Only 2 families:
6 males from 2 unrelated consanguineous Iranian families with autosomal recessive mental retardation-56, Pak et al. (2011) identified 2 different homozygous mutations in the ZC3H14 gene (613279.0001 and 613279.0002).

PMID: 33710394
1 Finnish family with a hom splice variant, severe ID. Classed a VUS. No functional evidence
Created: 5 Jul 2021, 5:29 a.m. | Last Modified: 5 Jul 2021, 5:29 a.m.
Panel Version: 0.3921

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 56 MIM#617125

Publications

Created: 5 Jul 2021, 5:29 a.m.
Last Modified: 5 Jul 2021, 5:29 a.m.
Panel version: 0.3921

Chirag Patel (Genetic Health Queensland)

I don't know

Only 2 families:
6 males from 2 unrelated consanguineous Iranian families with autosomal recessive mental retardation-56, Pak et al. (2011) identified 2 different homozygous mutations in the ZC3H14 gene (613279.0001 and 613279.0002).
Created: 4 Dec 2019, 12:56 p.m. | Last Modified: 4 Dec 2019, 12:56 p.m.
Panel Version: 0.309

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 56; OMIM# 617125

Publications

Created: 4 Dec 2019, 12:56 p.m.
Last Modified: 4 Dec 2019, 12:56 p.m.
Panel version: 0.309

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mental retardation, autosomal recessive 56
  • OMIM# 617125
OMIM
613279
Clinvar variants
Variants in ZC3H14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jul 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZC3H14 were set to 21734151; 33710394

8 Jul 2021, Gel status: 2

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: ZC3H14 were set to PubMed: 21734151

14 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zc3h14 has been classified as Amber List (Moderate Evidence).

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: zc3h14 has been classified as Amber List (Moderate Evidence).

4 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from ZC3H14. Source Expert list was added to ZC3H14. Mode of inheritance for gene ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125 Publications for gene ZC3H14 were changed from PubMed: 21734151 to PubMed: 21734151

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZC3H14 was added gene: ZC3H14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZC3H14 was set to Unknown