Gene Symbol:
AIFM1
HGNC:8768
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq26.1
Filters:

Definitive classifications

X-linked hereditary sensory and autonomic neuropathy with hearing loss
XL
07/09/2018
Evaluated
04/21/2024
Submitted

Strong classifications

X-linked hereditary sensory and autonomic neuropathy with hearing loss
Submitted as: OMIM:300614
XL
10/09/2020
Evaluated
11/09/2020
Submitted
severe X-linked mitochondrial encephalomyopathy
Submitted as: OMIM:300816
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
severe X-linked mitochondrial encephalomyopathy
Submitted as: OMIM:300816
XL
07/22/2015
Evaluated
09/11/2023
Submitted
X-linked hereditary sensory and autonomic neuropathy with hearing loss
Submitted as: OMIM:300614
XL
04/16/2021
Evaluated
11/30/2023
Submitted
severe X-linked mitochondrial encephalomyopathy
Submitted as: OMIM:300816
XL
09/20/2023
Evaluated
11/30/2023
Submitted
spondyloepimetaphyseal dysplasia, Bieganski type
Submitted as: OMIM:300232
XL
04/16/2021
Evaluated
11/30/2023
Submitted
Charcot-Marie-Tooth disease X-linked recessive 4
Submitted as: OMIM:310490
XL
05/18/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

Supportive classifications

spondyloepimetaphyseal dysplasia, Bieganski type
Submitted as: Orphanet:83629
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease X-linked recessive 4
Submitted as: Orphanet:101078
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked hereditary sensory and autonomic neuropathy with hearing loss
Submitted as: Orphanet:139583
XL
09/14/2021
Evaluated
09/14/2021
Submitted
severe X-linked mitochondrial encephalomyopathy
Submitted as: Orphanet:238329
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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