Gene Symbol:
LEMD2
HGNC:21244
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6p21.31
Filters:

Strong classifications

Marbach-Rustad progeroid syndrome
Submitted as: OMIM:619322
AD
10/24/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

total early-onset cataract
Submitted as: Orphanet:98994
AD
09/14/2021
Evaluated
09/14/2021
Submitted
early-onset posterior subcapsular cataract
Submitted as: Orphanet:441447
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

cataract 46 juvenile-onset
Submitted as: OMIM:212500
AR
12/08/2023
Evaluated
01/17/2025
Submitted
cataract 46 juvenile-onset
Submitted as: OMIM:212500
AR
02/28/2020
Evaluated
11/30/2023
Submitted
Marbach-Rustad progeroid syndrome
Submitted as: OMIM:619322
AD
12/05/2023
Evaluated
01/17/2025
Submitted

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