Early onset or syndromic epilepsy
Gene: DEAF1The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
MOI should be changed from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as Monoallelic variants also cause seizures.Created: 26 Oct 2021, 2:41 p.m. | Last Modified: 26 Oct 2021, 2:41 p.m.
Panel Version: 2.449
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Seizures are reported in 70-80% individuals with both the mono-allelic and the bi-allelic DEAF1-related conditions (Table 1 in 30923367), consider changing mode of inheritance.Created: 22 Jan 2020, 12:30 a.m. | Last Modified: 22 Jan 2020, 12:30 a.m.
Panel Version: 2.0
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 disabilityCreated: 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
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
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
Tag Q4_21_MOI was removed from gene: DEAF1.
Mode of inheritance for gene DEAF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q4_21_MOI tag was added to gene: DEAF1.
Gene: deaf1 has been classified as Green List (High Evidence).
Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder 617171 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171
Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Source Wessex and West Midlands GLH was added to DEAF1.
Source NHS GMS was added to DEAF1.
Publications for gene: DEAF1 were set to 26048982; 28940898; 26834045; 30109124
Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sarah Leigh: Comment on phenotypes: Biallel
Gene: deaf1 has been classified as Green List (High Evidence).
Phenotypes for gene: DEAF1 were set to ?Dyskinesia, seizures, and intellectual developmental disorder 617171
Mode of inheritance for gene: DEAF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: deaf1 has been classified as Green List (High Evidence).
Publications for gene: DEAF1 were set to 26048982; 28940898; 26834045; 30109124
DEAF1 was added to Genetic Epilepsy Syndromes panel. Sources: Literature
DEAF1 was created by Sarah Leigh