Gene Symbol:
TMEM67
HGNC:28396
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8q22.1
Filters:

Definitive classifications

COACH syndrome 1
Submitted as: OMIM:216360
AR
07/22/2015
Evaluated
11/25/2020
Submitted
nephronophthisis 11
Submitted as: OMIM:613550
AR
07/22/2015
Evaluated
11/25/2020
Submitted
Meckel syndrome, type 3
Submitted as: OMIM:607361
AR
06/07/2016
Evaluated
09/28/2021
Submitted

Strong classifications

COACH syndrome 1
Submitted as: OMIM:216360
AR
06/07/2016
Evaluated
09/28/2021
Submitted
Joubert syndrome 6
Submitted as: OMIM:610688
AR
06/07/2016
Evaluated
09/28/2021
Submitted

Moderate classifications

nephronophthisis 11
Submitted as: OMIM:613550
AR
09/10/2018
Evaluated
09/28/2021
Submitted

Supportive classifications

Meckel syndrome
Submitted as: Orphanet:564
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Joubert syndrome
Submitted as: Orphanet:475
AR
09/14/2021
Evaluated
09/14/2021
Submitted
COACH syndrome 1
Submitted as: Orphanet:1454
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Senior-Boichis syndrome
Submitted as: Orphanet:84081
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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