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Genetic Epilepsy

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 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Van der Schoot et al. (2018) reported 4 unrelated patients with MRD22 and summarized clinical information on 21 previously reported patients. All 25 patients had developmental delay, including 7 of 17 with microcephaly, 9 of 15 with corpus callosum abnormalities, 10 of 13 with dysmorphic facial features, and 4 of 17 with seizures.
Created: 16 Dec 2021, 5:48 a.m. | Last Modified: 16 Dec 2021, 5:48 a.m.
Panel Version: 0.1410

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 22, MIM# 612337

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF resulting in haploinsufficiency. NMD not predicted (2 exons only (exon 1 has 5 residues)). Also no LOF present in gnomAD.

- Missense dominant-negative predicted for hotspot cluster at zinc finger domains based on ZBTB20 homolog functional studies (similar hotspot cluster seen there). Partial LOF also predicted for missense-altered DNA binding capacity.

- No clear genotype-phentoype correlation has been made.
Created: 26 Jun 2020, 6:07 a.m. | Last Modified: 26 Jun 2020, 6:07 a.m.
Panel Version: 0.3164

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

Phenotypes
Mental retardation, autosomal dominant 22 612337

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Mental retardation, autosomal dominant 22, MIM# 612337
OMIM
608433
Clinvar variants
Variants in ZBTB18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337

16 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZBTB18 were set to

16 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZBTB18 was added gene: ZBTB18 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZBTB18 was set to Unknown