Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: ZNF148

Amber List (moderate evidence)

ZNF148 (zinc finger protein 148)
EnsemblGeneIds (GRCh38): ENSG00000163848
EnsemblGeneIds (GRCh37): ENSG00000163848
OMIM: 601897, Gene2Phenotype
ZNF148 is in 1 panel

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

In 4 unrelated children with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies (MIM:617260), PMID:27964749 (2016) identified 4 different de novo heterozygous truncating mutations in the ZNF148 gene. However, variants in additional genes were detected in 3 of the patients, and therefore further ZNF148 cases are required to support ID causation.
Created: 31 Oct 2017, 9:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_manual . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Manual assessment of Genes of interest from literature searches and personal communication

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 5:13 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260
OMIM
601897
Clinvar variants
Variants in ZNF148
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

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: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ZNF148 was set to ['27964749']

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

ZNF148 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

ZNF148 was created by BRIDGE