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DDG2P v3.12 | SHH | Achchuthan Shanmugasundram reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 11471164, 15103725, 12567406; Phenotypes: HOLOPROSENCEPHALY TYPE 3, OMIM:142945, MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, OMIM:611638, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, OMIM:174500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | SHH | Achchuthan Shanmugasundram Publications for gene: SHH were updated from 11471164; 15103725; 12567406 to 12503095; 11471164; 15103725; 12567406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SHH | Rebecca Foulger reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SHH | Rebecca Foulger Added phenotypes HOLOPROSENCEPHALY TYPE 3 236100 for gene: SHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SHH |
Rebecca Foulger Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250 for gene: SHH Publications for gene SHH were changed from 12503095 to 11471164; 15103725; 12567406 |
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DDG2P v0.1 | SHH |
Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638 for gene: SHH Publications for gene SHH were changed from to 12503095 |
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DDG2P v0.1 | SHH |
Rebecca Foulger gene: SHH was added gene: SHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHH were set to TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500 |