Fetal anomalies
Gene: DEAF1

DEAF1 (DEAF1, transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000177030
EnsemblGeneIds (GRCh37): ENSG00000177030
OMIM: 602635, Gene2Phenotype
DEAF1 is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.

Panel Version: 4.36

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

One individual reported with thin corpus callosum, otherwise nothing which might possibly show up antenatally. Again, green for gene, red for R21
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.

Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: In agreement with previous DEAF1 review from Deirdre Cilliers, no structural features would present on a fetal scan. Action taken: Demoted DEAF1 gene rating from Amber to Red.
Created: 29 Apr 2019, 2:52 p.m.

Comment on list classification: Originally rated as Amber based on multiple DDG2P/PAGE ratings for different disorders. Have kept rating as Amber following advice from Deirdre Cilliers (see review for details).
Created: 11 Feb 2019, 1:17 p.m.

Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Probably not [include DEAF1 on the Fetal anomalies panel] if the panel was requested only for fetal structural anomalies. Difficult to decide as one would like to make this diagnosis prenatally. However, no structural features on ultrasound scan and this would make variant interpretation difficult – especially as some of the mutations have been missense mutations.
Created: 11 Feb 2019, 1:15 p.m.

'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Created: 8 Nov 2018, 8:55 p.m.

In the original PAGE file: rated as Confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, and rated as Probable for Autism, intellectual disability, basal ganglia dysfunction and epilepsy. In the original PAGE file, no MOI was recorded for Autism, intellectual disability, basal ganglia dysfunction and epilepsy. In the original PAGE file, MOP listed as Dominant negative for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24. No MOP listed for Autism, intellectual disability, basal ganglia dysfunction and epilepsy.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.225

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171
Vulto-van Silfout-de Vries syndrome, OMIM:615828

Tags

watchlist

OMIM

602635

Clinvar variants

Variants in DEAF1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DEAF1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Autism, intellectual disability, basal ganglia dysfunction and epilepsy to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Vulto-van Silfout-de Vries syndrome, OMIM:615828

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to DEAF1. Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171 for gene: DEAF1 Publications for gene: DEAF1 were updated from to 28940898; 30923367; 26048982; 24726472; 26834045

29 Apr 2019, Gel status: 1