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Intellectual disability

Gene: DNAH14

Red List (low evidence)
DNAH14 (dynein axonemal heavy chain 14)
EnsemblGeneIds (GRCh38): ENSG00000185842
EnsemblGeneIds (GRCh37): ENSG00000185842
OMIM: 603341, Gene2Phenotype
DNAH14 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with relevant phenotype in OMIM and as limited Gen2Phen gene for DNAH14-related Neurodevelopmental disorder. PMID: 35438214 reports five novel DNAH14 variants and reviews six previously reported DNAH14 variants (PMIDs: 26036949;30125339;26636390;32848021). Although neurodevelopmental anomalies are reported, there does not appear to be a constant phenotype within these carriers of DNAH14 variants.
Created: 17 Aug 2023, 5:12 p.m. | Last Modified: 17 Aug 2023, 5:12 p.m.
Panel Version: 5.255

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 17 Aug 2023, 5:12 p.m.
Last Modified: 17 Aug 2023, 5:12 p.m.
Panel version: 5.255

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

Created: 2 May 2022, 8:19 p.m.

Panel version: 3.1561

Details

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

History Filter Activity

17 Aug 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DNAH14 were set to 35438214

17 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dnah14 has been classified as Red List (Low Evidence).

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