Gene Symbol:
IFT43
HGNC:29669
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q24.3
Filters:

Definitive classifications

cranioectodermal dysplasia 3
Submitted as: OMIM:614099
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

short-rib thoracic dysplasia 18 with polydactyly
Submitted as: OMIM:617866
AR
09/30/2019
Evaluated
11/30/2023
Submitted

Supportive classifications

cranioectodermal dysplasia
Submitted as: Orphanet:1515
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

retinitis pigmentosa 81
Submitted as: OMIM:617871
Unknown
08/26/2019
Evaluated
11/30/2023
Submitted

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