View disease #00135

Official abbreviation GTPTS
Name genitopatellar syndrome (GTPTS)
OMIM ID 606170
Individuals reported having this disease 16
Phenotype entries for this disease 13
Associated with 1 gene KAT6B
Associated tissues -
Disease features -
Remarks -


Individuals

16 entries on 1 page. Showing entries 1 - 16.
Legend  

AscendingIndividual ID     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age of death     

VIP     

Data_av     

Treatment     

Disease     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00018512 - - - F - - - - 0 - - GTPTS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018513 - - - M - - - - 0 - - GTPTS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018514 - - - M - - - - 0 - - GTPTS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018527 - - - F ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018528 - PubMed: Simpson et al. - F ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018529 - - - F ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018530 - - - M ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018531 - - - M ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018532 - - - F ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018534 - - - M ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018538 - - - M ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018539 - - - F ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018540 - - - M ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018541 - - - F ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00018542 - - - M ? ? (unknown) ? - 0 - - GTPTS KAT6B KAT6B 1 1 Philippe Campeau
00080993 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - GTPTS KAT6B KAT6B 1 1 Daniel Trujillano
Legend