Gene Symbol:
CAV1
HGNC:1527
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7q31.2
Filters:

Definitive classifications

pulmonary arterial hypertension
AD
11/23/2022
Evaluated
04/21/2024
Submitted

Strong classifications

partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Submitted as: OMIM:606721
AD
04/09/2020
Evaluated
11/30/2023
Submitted
pulmonary hypertension, primary, 3
Submitted as: OMIM:615343
AD
07/31/2017
Evaluated
11/30/2023
Submitted

Moderate classifications

congenital generalized lipodystrophy type 3
Submitted as: OMIM:612526
AD
08/31/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

Berardinelli-Seip congenital lipodystrophy
Submitted as: Orphanet:528
AR
09/14/2021
Evaluated
09/14/2021
Submitted
heritable pulmonary arterial hypertension
Submitted as: Orphanet:275777
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

pulmonary hypertension, primary, 3
Submitted as: OMIM:615343
AD
04/17/2016
Evaluated
03/02/2021
Submitted
amyotrophic lateral sclerosis
AD
12/21/2023
Evaluated
04/21/2024
Submitted

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