Activity
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10 actions
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| Holoprosencephaly v2.25 | SMC1A | Ivone Leong Tag for-review was removed from gene: SMC1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v2.25 | SMC1A | Sarah Leigh commented on gene: SMC1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v2.24 | SMC1A |
Ivone Leong Source Expert Review Green was added to SMC1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Holoprosencephaly v2.12 | SMC1A | Arina Puzriakova Tag for-review tag was added to gene: SMC1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v2.12 | SMC1A | Arina Puzriakova Classified gene: SMC1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v2.12 | SMC1A |
Arina Puzriakova Added comment: Comment on list classification: New gene added by external reviewer. At least 6 unrelated females with holoprosencephaly, mostly commonly semi-lobar type, associated with de novo variants in this gene (PMIDs: 28166369 and 31334757). Likely represents the severe end of the spectrum of SMC1A-related disorders. Sufficient evidence to rate Green at the next GMS panel update (added 'for-review' tag) |
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| Holoprosencephaly v2.12 | SMC1A | Arina Puzriakova Gene: smc1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v2.11 | SMC1A | Arina Puzriakova Publications for gene: SMC1A were set to PMID: 31334757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v2.10 | SMC1A | Arina Puzriakova Phenotypes for gene: SMC1A were changed from holoprosencephaly; single central incisor to Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v2.5 | SMC1A |
Shane Mckee gene: SMC1A was added gene: SMC1A was added to Holoprosencephaly. Sources: Other Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SMC1A were set to PMID: 31334757 Phenotypes for gene: SMC1A were set to holoprosencephaly; single central incisor Penetrance for gene: SMC1A were set to Incomplete Review for gene: SMC1A was set to GREEN Added comment: Cohesin complex genes SMC1A, STAG4 etc need added to the panel; loss of function mutations in females (X-linked dominant) Sources: Other |
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