Gene Symbol:
OFD1
HGNC:2567
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp22.2
Filters:

Definitive classifications

orofaciodigital syndrome I
Submitted as: OMIM:311200
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
Simpson-Golabi-Behmel syndrome type 2
Submitted as: OMIM:300209
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Joubert syndrome 10
Submitted as: OMIM:300804
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Joubert syndrome 10
Submitted as: OMIM:300804
XL
07/22/2015
Evaluated
09/11/2023
Submitted
orofaciodigital syndrome I
Submitted as: OMIM:311200
XL
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

orofaciodigital syndrome I
Submitted as: OMIM:311200
XL
03/09/2023
Evaluated
11/30/2023
Submitted
retinitis pigmentosa 23
Submitted as: OMIM:300424
XL
08/29/2017
Evaluated
09/11/2023
Submitted
Joubert syndrome 10
Submitted as: OMIM:300804
XL
05/31/2019
Evaluated
11/30/2023
Submitted
retinitis pigmentosa 23
Submitted as: OMIM:300424
XL
04/16/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

retinitis pigmentosa
Submitted as: Orphanet:791
AD
09/14/2021
Evaluated
09/14/2021
Submitted
primary ciliary dyskinesia
Submitted as: Orphanet:244
AD
09/14/2021
Evaluated
09/14/2021
Submitted
orofaciodigital syndrome I
Submitted as: Orphanet:2750
XL
09/14/2021
Evaluated
09/14/2021
Submitted
orofaciodigital syndrome type 6
Submitted as: Orphanet:2754
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Simpson-Golabi-Behmel syndrome type 2
Submitted as: OMIM:300209
XL
07/05/2018
Evaluated
09/11/2023
Submitted

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