Gene Symbol:
LRP4
HGNC:6696
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p11.2
Filters:

Definitive classifications

Cenani-Lenz syndactyly syndrome
AR
04/21/2023
Evaluated
04/21/2024
Submitted
Cenani-Lenz syndactyly syndrome
Submitted as: OMIM:212780
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

congenital myasthenic syndrome 17
Submitted as: OMIM:616304
AR
01/29/2021
Evaluated
03/31/2021
Submitted
congenital myasthenic syndrome 17
Submitted as: OMIM:616304
AR
10/26/2020
Evaluated
12/30/2020
Submitted
Cenani-Lenz syndactyly syndrome
Submitted as: OMIM:212780
AR
03/19/2018
Evaluated
03/02/2021
Submitted
Cenani-Lenz syndactyly syndrome
Submitted as: OMIM:212780
AR
02/07/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

sclerosteosis
Submitted as: Orphanet:3152
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Cenani-Lenz syndactyly syndrome
Submitted as: Orphanet:3258
AR
09/14/2021
Evaluated
09/14/2021
Submitted
postsynaptic congenital myasthenic syndrome
Submitted as: Orphanet:98913
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

sclerosteosis 2
Submitted as: OMIM:614305
SD
03/19/2018
Evaluated
03/02/2021
Submitted
congenital myasthenic syndrome 17
Submitted as: OMIM:616304
AR
09/30/2019
Evaluated
11/30/2023
Submitted
congenital myasthenic syndrome 17
AR
04/21/2023
Evaluated
04/21/2024
Submitted

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