| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis v1.1 | MSMO1 | Zornitza Stark Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834) to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834); MONDO:0014793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.92 | MSMO1 | Zornitza Stark Marked gene: MSMO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.92 | MSMO1 | Zornitza Stark Added comment: Comment when marking as ready: Possible phenotypic overlap but not clear. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.92 | MSMO1 | Zornitza Stark Gene: msmo1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.92 | MSMO1 | Zornitza Stark Classified gene: MSMO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.92 | MSMO1 | Zornitza Stark Gene: msmo1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.90 | MSMO1 |
Paul De Fazio changed review comment from: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin'). Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis. Sources: Literature; to: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin'). Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis. There also doesn't appear to be anything published more recently. Sources: Literature |
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| Ichthyosis v0.90 | MSMO1 |
Paul De Fazio gene: MSMO1 was added gene: MSMO1 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 24144731; 21285510 Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834) Review for gene: MSMO1 was set to AMBER gene: MSMO1 was marked as current diagnostic Added comment: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin'). Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis. Sources: Literature |
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