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DDG2P

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder are strong, biallelic_autosomal and loss of function (PMIDs: 29893856, 31130284, 35104841, 36068688, 38899514). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03546.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 38899514;31130284;35104841;36068688;29893856).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder; MONDO:0032715; OMIM:618383.0

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder
Tags
gene-checked
Clinvar variants
Variants in ZBTB11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ZBTB11 was changed from Other to None

3 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: ZBTB11.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZBTB11 was added gene: ZBTB11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB11 were set to 31130284; 35104841; 36068688; 29893856; 38899514 Phenotypes for gene: ZBTB11 were set to ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder Mode of pathogenicity for gene: ZBTB11 was set to Other