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  3. ZBTB11
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Intellectual disability syndromic and non-syndromic

Gene: ZBTB11

Green List (high evidence)
ZBTB11 (zinc finger and BTB domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000066422
EnsemblGeneIds (GRCh37): ENSG00000066422
ZBTB11 is in 2 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 35104841
- Five patients from three families with novel, bi-allelic variants in ZBTB11.
- Expanding clinical phenotype of intellectual developmental disorder, autosomal recessive 69 (MTR69), documenting varied severity of atrophy affecting different brain regions. We also describe combined malonic and methylmalonic aciduria (CMAMMA) as a biochemical manifestation.
Created: 3 Mar 2022, 12:45 a.m. | Last Modified: 3 Mar 2022, 12:45 a.m.
Panel Version: 0.4517

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 69 (MIM#618383), AR

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Mar 2022, 12:45 a.m.
Last Modified: 3 Mar 2022, 12:45 a.m.
Panel version: 0.4517

Chirag Patel (Genetic Health Queensland)

I don't know

2 consanguineous families in which several members had impaired intellectual development. 2 different homozygous missense mutations in the ZBTB11 gene. In vitro functional expression studies in HEK293 cells showed that the mutant proteins were excluded from the nucleolus, where the wildtype protein is predominantly localized.
Created: 12 Feb 2020, 2:07 a.m. | Last Modified: 12 Feb 2020, 2:07 a.m.
Panel Version: 0.2123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 69; OMIM #618383

Publications

Created: 12 Feb 2020, 2:07 a.m.
Last Modified: 12 Feb 2020, 2:07 a.m.
Panel version: 0.2123

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 69
  • OMIM #618383
Clinvar variants
Variants in ZBTB11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb11 has been classified as Green List (High Evidence).

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb11 has been classified as Green List (High Evidence).

4 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb11 has been classified as Amber List (Moderate Evidence).

4 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZBTB11 were changed from to Intellectual developmental disorder, autosomal recessive 69; OMIM #618383

4 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZBTB11 were set to

4 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZBTB11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: zbtb11 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZBTB11 was added gene: ZBTB11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB11 was set to Unknown