Gene Symbol:
DEAF1
HGNC:14677
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p15.5
Filters:

Ambry Genetics classifications

intellectual disability, autosomal dominant 24
Submitted as: OMIM:615828
AD
01/24/2020
Evaluated
03/02/2021
Submitted
intellectual disability-epilepsy-extrapyramidal syndrome
Submitted as: OMIM:617171
AR
01/24/2020
Evaluated
03/02/2021
Submitted

Illumina classifications

complex neurodevelopmental disorder
SD
02/09/2021
Evaluated
10/27/2022
Submitted

Invitae classifications

intellectual disability, autosomal dominant 24
Submitted as: OMIM:615828
AD
09/09/2022
Evaluated
11/30/2023
Submitted
intellectual disability-epilepsy-extrapyramidal syndrome
Submitted as: OMIM:617171
AR
05/28/2019
Evaluated
11/30/2023
Submitted

Orphanet classifications

autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted
intellectual disability-epilepsy-extrapyramidal syndrome
Submitted as: Orphanet:468620
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

intellectual disability-epilepsy-extrapyramidal syndrome
Submitted as: OMIM:617171
AR
04/30/2018
Evaluated
01/17/2025
Submitted

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