| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe microcephaly v2.286 | ATP1A2 | Eleanor Williams Tag for-review was removed from gene: ATP1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.282 | ATP1A2 | Sarah Leigh commented on gene: ATP1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.281 | ATP1A2 |
Eleanor Williams Source Expert Review Green was added to ATP1A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.70 | ATP1A2 | Arina Puzriakova Classified gene: ATP1A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.70 | ATP1A2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. At least 4 unrelated families with multiple congenital abnormalities and different homozygous truncating variants in the ATP1A2 gene. All were affected by microcephaly, and where measurements were specified, the severity was within the scope of this panel. Rating Amber but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag) |
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| Severe microcephaly v2.70 | ATP1A2 | Arina Puzriakova Gene: atp1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.69 | ATP1A2 | Arina Puzriakova Tag for-review tag was added to gene: ATP1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.19 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204; 31608932 Phenotypes for gene: ATP1A2 were set to hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations Review for gene: ATP1A2 was set to GREEN gene: ATP1A2 was marked as current diagnostic Added comment: This is a distinct phenotype from the one associated with mono-allelic variants. PMID: 30690204; - 2 families with severe microcephaly (-6 to -8 SD) - both homozygous PTVs PMID: 31608932; - 4 patients from 2 families - Family A, all 3 affecteds had severe microcephaly during ultrasound (-3 to -4 SD) - Family B, no measurements were reported - both homozygous PTVs Sources: Expert list |
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