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Genetic epilepsy syndromes

Gene: DEAF1

Green List (high evidence)

DEAF1 (DEAF1, transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000177030
EnsemblGeneIds (GRCh37): ENSG00000177030
OMIM: 602635, Gene2Phenotype
DEAF1 is in 5 panels

4 reviews

Helen Lord (Oxford Medical Genetics Laboratories)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR dyskinesia, seizures and intellectual disability. Rajab et al, 2015 - 3 sibs born of consanguineous Omani parents hom splice variant. Mutation was verified to cause a splicing defect and about 80% mRNA decay leaving only 4-5% normal transcript in patient fibroblasts, consistent with LOF. Unaffected parents and unaffected sib all het. Other variants listed in assoc with DEAF1 on pubmed intellectual disability
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Dyskinesia, seizures, and intellectual developmental disorder 617171; Mental retardation autosomal dominant, 615828

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: Changed Mode of Inheritance from 'BOTH monoallelic and biallelic' to 'BIALLELIC' based on post-Webex reviews from Helen Lord. The original comment from West Midlands, Oxford and Wessex GLH (uploaded for Tracy Lester) also supports biallelic inheritance.
Created: 7 Sep 2019, 10:47 a.m. | Last Modified: 7 Sep 2019, 10:47 a.m.
Panel Version: 1.275
Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on mode of inheritance: PMID:30923367 supports the 'BOTH monoallelic and biallelic' MOI:. Nabais et al., 2019 investigated AD and AR DEAF1 variants in a cohort of 23 patients. With the exception of microcephaly, most phenotypes (including ID, DD and seizures) were reported in patients with biallelic and pathogenic de novo DEAF1 variants.
Created: 15 Jul 2019, 1:18 p.m. | Last Modified: 15 Jul 2019, 1:18 p.m.
Panel Version: 1.163

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Associated with relevant phenotype (?Dyskinesia, seizures, and intellectual developmental disorder 617171) in OMIM and as probable Gen2Phen gene for Autism, intellectual disability, basal ganglia dysfunction and epilepsy. At least 5 variants reported in at least 5 unrelated cases.
Created: 4 Sep 2018, 9:47 a.m.
Comment on phenotypes: Biallelic variants associated with ?Dyskinesia, seizures, and intellectual developmental disorder 617171 and monoallelic variants associated with Mental retardation, autosomal dominant 24 615828 .
Created: 4 Sep 2018, 9:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Dyskinesia, seizures, and intellectual developmental disorder 617171

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
Phenotypes
  • ?Dyskinesia, seizures, and intellectual developmental disorder, 617171
OMIM
602635
Clinvar variants
Variants in DEAF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: deaf1 has been classified as Green List (High Evidence).

7 Sep 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder 617171 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171

7 Sep 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DEAF1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DEAF1.

15 Jul 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DEAF1 were set to 26048982; 28940898; 26834045; 30109124

15 Jul 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment on phenotypes: Biallel

4 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: deaf1 has been classified as Green List (High Evidence).

4 Sep 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DEAF1 were set to ?Dyskinesia, seizures, and intellectual developmental disorder 617171

4 Sep 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: DEAF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: deaf1 has been classified as Green List (High Evidence).

4 Sep 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DEAF1 were set to 26048982; 28940898; 26834045; 30109124

4 Sep 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DEAF1 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

4 Sep 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

DEAF1 was created by Sarah Leigh