Gene Symbol:
FBLN5
HGNC:3602
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q32.12
Filters:

Definitive classifications

cutis laxa, autosomal dominant 2
Submitted as: OMIM:614434
AD
07/05/2018
Evaluated
09/11/2023
Submitted

Strong classifications

cutis laxa, autosomal recessive, type 1A
Submitted as: OMIM:219100
AR
10/08/2020
Evaluated
11/09/2020
Submitted
cutis laxa, autosomal dominant 2
Submitted as: OMIM:614434
AD
03/04/2020
Evaluated
03/31/2021
Submitted
cutis laxa, autosomal recessive, type 1A
Submitted as: OMIM:219100
AR
03/04/2020
Evaluated
03/31/2021
Submitted
cutis laxa, autosomal recessive, type 1A
Submitted as: OMIM:219100
AR
02/04/2021
Evaluated
11/30/2023
Submitted
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Submitted as: OMIM:619764
AD
04/21/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

cutis laxa, autosomal recessive, type 1A
Submitted as: OMIM:219100
SD
03/26/2018
Evaluated
03/02/2021
Submitted
macular degeneration, age-related, 3
Submitted as: OMIM:608895
AD
03/26/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

autosomal dominant cutis laxa
Submitted as: Orphanet:90348
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive cutis laxa type 1
Submitted as: Orphanet:90349
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary sensorimotor neuropathy with hyperelastic skin
Submitted as: Orphanet:280598
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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