Gene Symbol:
ALDH18A1
HGNC:9722
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10q24.1
Filters:

Definitive classifications

hereditary spastic paraplegia 9A
Submitted as: OMIM:601162
AD
07/22/2015
Evaluated
09/11/2023
Submitted
ALDH18A1-related de Barsy syndrome
Submitted as: OMIM:219150
AR
08/23/2017
Evaluated
09/11/2023
Submitted
SD
02/14/2020
Evaluated
10/27/2022
Submitted
cutis laxa, autosomal dominant 3
Submitted as: OMIM:616603
AD
01/08/2016
Evaluated
09/11/2023
Submitted

Strong classifications

autosomal recessive complex spastic paraplegia type 9B
Submitted as: OMIM:616586
AD
09/14/2021
Evaluated
11/30/2023
Submitted
ALDH18A1-related de Barsy syndrome
Submitted as: OMIM:219150
AR
10/13/2023
Evaluated
11/30/2023
Submitted
cutis laxa, autosomal dominant 3
Submitted as: OMIM:616603
AD
08/10/2017
Evaluated
11/30/2023
Submitted
autosomal recessive complex spastic paraplegia type 9B
Submitted as: OMIM:616586
AR
09/14/2021
Evaluated
11/30/2023
Submitted
cutis laxa, autosomal dominant 3
Submitted as: OMIM:616603
AD
03/04/2020
Evaluated
03/31/2021
Submitted
ALDH18A1-related de Barsy syndrome
Submitted as: OMIM:219150
AR
03/04/2020
Evaluated
03/31/2021
Submitted

Moderate classifications

cutis laxa, autosomal dominant 3
Submitted as: OMIM:616603
SD
02/02/2018
Evaluated
03/02/2021
Submitted
hereditary spastic paraplegia 9A
Submitted as: OMIM:601162
SD
02/02/2018
Evaluated
03/02/2021
Submitted
ALDH18A1-related de Barsy syndrome
Submitted as: OMIM:219150
AD
02/02/2018
Evaluated
03/02/2021
Submitted
cutis laxa, autosomal dominant 3
Submitted as: OMIM:616603
AD
02/02/2018
Evaluated
03/02/2021
Submitted
ALDH18A1-related de Barsy syndrome
Submitted as: OMIM:219150
AR
02/02/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

autosomal dominant cutis laxa
Submitted as: Orphanet:90348
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary spastic paraplegia 9A
Submitted as: Orphanet:447753
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant complex spastic paraplegia type 9B
Submitted as: Orphanet:447757
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive complex spastic paraplegia type 9B
Submitted as: Orphanet:447760
AR
09/14/2021
Evaluated
09/14/2021
Submitted
ALDH18A1-related de Barsy syndrome
Submitted as: Orphanet:35664
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

autosomal recessive complex spastic paraplegia type 9B
Submitted as: OMIM:616586
AR
02/02/2018
Evaluated
03/02/2021
Submitted
autosomal recessive complex spastic paraplegia type 9B
Submitted as: OMIM:616586
AR
08/23/2017
Evaluated
09/11/2023
Submitted

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