Gene Symbol:
IFT140
HGNC:29077
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p13.3
Filters:

Definitive classifications

short-rib thoracic dysplasia 9 with or without polydactyly
Submitted as: OMIM:266920
AR
07/22/2015
Evaluated
09/11/2023
Submitted
IFT140-related recessive ciliopathy
AR
05/04/2021
Evaluated
06/30/2023
Submitted
autosomal dominant polycystic kidney disease
AD
04/09/2024
Evaluated
04/21/2024
Submitted
IFT140-related recessive ciliopathy
AR
07/07/2022
Evaluated
04/21/2024
Submitted

Strong classifications

short-rib thoracic dysplasia 9 with or without polydactyly
Submitted as: OMIM:266920
AR
08/29/2023
Evaluated
11/30/2023
Submitted
retinitis pigmentosa 80
Submitted as: OMIM:617781
AR
06/08/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

Jeune syndrome
Submitted as: Orphanet:474
AR
09/14/2021
Evaluated
09/14/2021
Submitted
retinitis pigmentosa
Submitted as: Orphanet:791
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Leber congenital amaurosis
Submitted as: Orphanet:65
AD
09/14/2021
Evaluated
09/14/2021
Submitted
short-rib thoracic dysplasia 9 with or without polydactyly
Submitted as: Orphanet:140969
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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