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Intellectual disability

Gene: DNAH14

No list

DNAH14 (dynein axonemal heavy chain 14)
EnsemblGeneIds (GRCh38): ENSG00000185842
EnsemblGeneIds (GRCh37): ENSG00000185842
OMIM: 603341, Gene2Phenotype
DNAH14 is in 1 panel

1 review

Konstantinos Varvagiannis (Other)

Red List (low evidence)

Li et al (2022 - PMID: 35438214) describe 3 individuals harboring biallelic DNAH14 variants. In addition the authors perform a review of cases previously published in the literature.

The reported phenotype does not appear to be very consistent or specific (seizures with highly variable age of onset with or without DD / cognitive delay). Comparison with previously reported subjects (not further reviewed) - discussed in text and appearing mixed in table 1 - does not seem to support an overlapping phenotype.

The authors comment that DNAH14 encodes a heavy chain of axonemal dyneins. Little evidence is provided to support the role of the gene in the pathogenesis of the disorder and pathogenicity of the variants (ultra-rare and predicted in silico to be deleterious).
Sources: Literature
Created: 2 May 2022, 8:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
OMIM
603341
Clinvar variants
Variants in DNAH14
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 May 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance

Konstantinos Varvagiannis (Other)

gene: DNAH14 was added gene: DNAH14 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH14 were set to 35438214 Penetrance for gene: DNAH14 were set to unknown Review for gene: DNAH14 was set to RED