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Early onset or syndromic epilepsy

Gene: ZBTB47

Green List (high evidence)

ZBTB47 (zinc finger and BTB domain containing 47)
EnsemblGeneIds (GRCh38): ENSG00000114853
EnsemblGeneIds (GRCh37): ENSG00000114853
ZBTB47 is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:26 p.m.
Panel Version: 5.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

ZBTB47 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37743782 reports five unrelated patients with de novo missense variants in ZBTB47 (c.2039A>G, p.(Glu680Gly) in one patient and c.1429G>A, p.(Glu477Lys) in four others), with a phenotype that included developmental delay, intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities.
Created: 23 Nov 2023, 4:16 p.m. | Last Modified: 23 Nov 2023, 4:16 p.m.
Panel Version: 4.133
The opinion of Helen Brittain (Genomics England, Clinical Fellow), was that ZBTB47 should be green on the Intellectual disability and Early onset or syndromic epilepsy panels.
Created: 2 Nov 2023, 5:29 p.m. | Last Modified: 23 Nov 2023, 4:18 p.m.
Panel Version: 4.133

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID 37743782:
- 5 individuals with de novo missense variants, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5).
- Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers.
- No functional studies performed
Sources: Literature
Created: 21 Oct 2023, 6:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
gene-checked
Clinvar variants
Variants in ZBTB47
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2024, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: ZBTB47.

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: ZBTB47.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ZBTB47. Source Expert Review Green was added to ZBTB47. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Nov 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ZBTB47 were changed from Neurodevelopmental disorder, MONDO; 0700092 to Neurodevelopmental disorder, MONDO:0700092

23 Nov 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ZBTB47 were changed from Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related to Neurodevelopmental disorder, MONDO; 0700092

23 Nov 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: ZBTB47.

23 Nov 2023, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: ZBTB47 was added gene: ZBTB47 was added to Early onset or syndromic epilepsy. Sources: Literature,Expert Review Amber Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB47 were set to 37743782 Phenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related