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  3. ZBTB18
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Fetal anomalies

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)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 22, MIM# 612337

Publications

Created: 16 Dec 2021, 5:36 a.m.
Last Modified: 16 Dec 2021, 5:36 a.m.
Panel version: 0.1383

Alison Yeung (Victorian Clinical Genetics Services)

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, 4:34 a.m. | Last Modified: 16 Dec 2021, 4:34 a.m.
Panel Version: 0.1372

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

Phenotypes
ZBTB18 syndrome; Intellectual disability; microcephaly; corpus callosum abnormalities, OMIM #612337

Created: 16 Dec 2021, 4:34 a.m.
Last Modified: 16 Dec 2021, 4:34 a.m.
Panel version: 0.1372

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, autosomal dominant 22, MIM# 612337
  • Intellectual disability
  • microcephaly
  • corpus callosum abnormalities
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 ZBTB18 syndrome to Mental retardation, autosomal dominant 22, MIM# 612337; Intellectual disability; microcephaly; corpus callosum abnormalities

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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZBTB18 was added gene: ZBTB18 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome