Gene Symbol:
TRPV4
HGNC:18083
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q24.11
Filters:

Definitive classifications

spondylometaphyseal dysplasia, Kozlowski type
Submitted as: OMIM:184252
AD
07/22/2015
Evaluated
11/25/2020
Submitted
metatropic dysplasia
Submitted as: OMIM:156530
AD
07/22/2015
Evaluated
11/25/2020
Submitted
metatropic dysplasia
AD
12/08/2020
Evaluated
08/16/2021
Submitted
spondylometaphyseal dysplasia, Kozlowski type
AD
06/07/2021
Evaluated
08/16/2021
Submitted

Strong classifications

autosomal dominant brachyolmia
Submitted as: OMIM:113500
AD
01/04/2021
Evaluated
03/31/2021
Submitted

Moderate classifications

spondyloepimetaphyseal dysplasia, Maroteaux type
AD
05/19/2021
Evaluated
08/16/2021
Submitted
scapuloperoneal spinal muscular atrophy, autosomal dominant
Submitted as: OMIM:181405
AD
01/28/2019
Evaluated
09/28/2021
Submitted

Supportive classifications

metatropic dysplasia
Submitted as: Orphanet:2635
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant congenital benign spinal muscular atrophy
Submitted as: Orphanet:1216
AD
09/14/2021
Evaluated
09/14/2021
Submitted
parastremmatic dwarfism
Submitted as: Orphanet:2646
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial digital arthropathy-brachydactyly
Submitted as: Orphanet:85169
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial avascular necrosis of femoral head
Submitted as: Orphanet:86820
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant brachyolmia
Submitted as: Orphanet:93304
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spondylometaphyseal dysplasia, Kozlowski type
Submitted as: Orphanet:93314
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease axonal type 2C
Submitted as: Orphanet:99937
AD
09/14/2021
Evaluated
09/14/2021
Submitted
scapuloperoneal spinal muscular atrophy, autosomal dominant
Submitted as: Orphanet:431255
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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