Gene Symbol:
IFIH1
HGNC:18873
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q24.2
Filters:

Definitive classifications

Aicardi-Goutieres syndrome 7
AD
03/04/2020
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The IFIH1 gene is located on chromosome 2 at 2q24.2 and encodes the interferon induced with helicase... Read more
Aicardi-Goutieres syndrome 7
Submitted as: OMIM:615846
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Singleton-Merten syndrome 1
Submitted as: OMIM:182250
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Aicardi-Goutieres syndrome 7
Submitted as: OMIM:615846
AD
12/22/2020
Evaluated
12/24/2020
Submitted
Aicardi-Goutieres syndrome 7
Submitted as: OMIM:615846
AD
01/30/2023
Evaluated
11/30/2023
Submitted
Singleton-Merten syndrome 1
Submitted as: OMIM:182250
AD
09/30/2019
Evaluated
11/30/2023
Submitted

Supportive classifications

Aicardi-Goutieres syndrome
Submitted as: Orphanet:51
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Singleton-Merten dysplasia
Submitted as: Orphanet:85191
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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