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| Holoprosencephaly - NOT chromosomal v2.7 | PPP1R12A | Arina Puzriakova Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome, 618820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.6 | PPP1R12A | Arina Puzriakova Tag watchlist tag was added to gene: PPP1R12A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.6 | PPP1R12A | Arina Puzriakova Classified gene: PPP1R12A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.6 | PPP1R12A | Arina Puzriakova Added comment: Comment on list classification: Rating Amber, awaiting further publications/clinical evidence as currently only two cases reported (added to watchlist). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.6 | PPP1R12A | Arina Puzriakova Gene: ppp1r12a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.5 | PPP1R12A | Arina Puzriakova reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31883643; Phenotypes: Genitourinary and/or/brain malformation syndrome, 618820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.5 | PPP1R12A |
Zornitza Stark gene: PPP1R12A was added gene: PPP1R12A was added to Holoprosencephaly. Sources: Expert list Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP1R12A were set to 31883643 Phenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development Review for gene: PPP1R12A was set to GREEN gene: PPP1R12A was marked as current diagnostic Added comment: 12 individuals reported. Sources: Expert list |
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