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Intellectual disability

Gene: ZBTB18

Green List (high evidence)

ZBTB18 (zinc finger and BTB domain containing 18)
EnsemblGeneIds (GRCh38): ENSG00000179456
EnsemblGeneIds (GRCh37): ENSG00000179456
OMIM: 608433, Gene2Phenotype
ZBTB18 is in 5 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 9:22 p.m.
Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 9:18 p.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases with SNVs (de novo truncating and missense) in addition to the originally described chromosome deletion cases. Include.
Created: 14 Nov 2017, 11:34 a.m.

Caroline Wright (Sanger)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

>3 unrelated cases of ZBTB18 (also called ZNF238) supporting an ID phenotype (1st patient in PMID:23020937, 2nd patient in PMID:24193349, 3rd patient in PMID:26740508, 5 more patients in PMID:27598823).
Created: 29 Nov 2017, 11:19 a.m.
PMID:27598823 (2017) report ZBTB18 as the likely cause of ID in 5 unrelated patients with variable syndromic features.
Created: 16 Oct 2017, 10:10 a.m.
PMID:28345786 (2017) report a 6 year old girl with global developmental delay, ataxia and discrete facial dysmorphisms (amongst other symptoms). The patient had a de novo ZBTB18 nonsense mutation and a de novo 15q13.3 microdeletion (encompassing CHRNA7) both in a heterozygous state. The authors assume an additive effect of haploinsufficiency of ZBTB18 and CHRNA7 in the patient.
Created: 16 Oct 2017, 10:09 a.m.
PMID:26740508 (2016) present a patient with severe ID, microcephaly, developmental regression, hand stereotypies, bruxism, screaming spells and abnormal breathing. She had a de novo truncating variant in ZBTB18 (c. 583C>T, p.R195*).
Created: 16 Oct 2017, 10:09 a.m.
PMID:24193349 (2014) report a nonsensense variant (c.397 G>T, p.Glu133*) in ZBTB18 in a female patient with features overlapping including 1q43q44 microdeletion syndrome (except for a normal corpus callosum), including microcephaly (-2 SD), pronounced speech delay and global DD.
Created: 16 Oct 2017, 10:08 a.m.
In PMID:23020937 (2012, an exome sequencing study of ID) a female patient with severe non-syndromic ID and normal neuroimaging was found to have a de novo missense alteration, c.1483C>G (p.R495G), in transcript NM_205768.2 [reported as c.1456C>G (p.R486G) based on the non-preferred transcript NM_006352.3]. The authors proposed ZNF238 (ZBTB18) as a candidate gene for ID.
Created: 16 Oct 2017, 10:07 a.m.

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

Phenotypes
intellectual disability with variable features; global developmental delay; Mental retardation, autosomal dominant 22, 612337

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_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:57 p.m.

Mode of inheritance
Unknown

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • intellectual disability with variable features
  • global developmental delay
  • Mental retardation, autosomal dominant 22, 612337
OMIM
608433
Clinvar variants
Variants in ZBTB18
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: zbtb18 has been classified as Green List (High Evidence).

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: zbtb18 has been classified as Green List (High Evidence).

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ZBTB18.

12 Mar 2018, Gel status: 4

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.

19 Dec 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ZBTB18 were set to 28345786; 27598823; 24193349; 23020937; 26740508; 25529582

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to ZBTB18. Panel: Intellectual disability Model of inheritance for gene ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene ZBTB18 was set to ['28345786', ' 27598823', ' 24193349', ' 23020937', ' 26740508']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZBTB18 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ZBTB18 was added to Intellectual disabilitypanel. Sources: Expert Review Red