Gene Symbol:
IFT172
HGNC:30391
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2p23.3
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
short-rib thoracic dysplasia 10 with or without polydactyly
Submitted as: OMIM:615630
AR
08/28/2017
Evaluated
09/11/2023
Submitted

Strong classifications

Bardet-Biedl syndrome 20
Submitted as: OMIM:619471
AR
10/20/2021
Evaluated
11/30/2023
Submitted
retinitis pigmentosa 71
Submitted as: OMIM:616394
AR
10/20/2021
Evaluated
11/30/2023
Submitted
short-rib thoracic dysplasia 10 with or without polydactyly
Submitted as: OMIM:615630
AR
04/09/2020
Evaluated
11/30/2023
Submitted

Moderate classifications

short-rib thoracic dysplasia 10 with or without polydactyly
Submitted as: OMIM:615630
AR
02/08/2018
Evaluated
12/24/2020
Submitted
retinitis pigmentosa 71
Submitted as: OMIM:616394
AR
05/25/2018
Evaluated
12/24/2020
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
Bardet-Biedl syndrome
Submitted as: Orphanet:110
AR
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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