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| Bilateral congenital or childhood onset cataracts v2.98 | PIK3C2A | Ivone Leong Tag for-review was removed from gene: PIK3C2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.98 | PIK3C2A | Ivone Leong commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.97 | PIK3C2A |
Ivone Leong Source Expert Review Green was added to PIK3C2A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Bilateral congenital or childhood onset cataracts v2.27 | PIK3C2A | Ivone Leong Tag for-review tag was added to gene: PIK3C2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.27 | PIK3C2A | Ivone Leong Classified gene: PIK3C2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.27 | PIK3C2A | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.27 | PIK3C2A | Ivone Leong Gene: pik3c2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.26 | PIK3C2A | Ivone Leong Phenotypes for gene: PIK3C2A were changed from Oculoskeletodental syndrome, 618440 to Oculoskeletodental syndrome, OMIM:618440, MONDO:0034145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.6 | PIK3C2A | Zornitza Stark reviewed gene: PIK3C2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31034465; Phenotypes: Oculoskeletodental syndrome, MIM# 618440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.1 | PIK3C2A | Ivone Leong edited their review of gene: PIK3C2A: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.1 | PIK3C2A |
Ivone Leong changed review comment from: PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included "dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status. Sources: Literature; to: PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included "dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status. Sources: Literature |
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| Bilateral congenital or childhood onset cataracts v2.1 | PIK3C2A |
Ivone Leong gene: PIK3C2A was added gene: PIK3C2A was added to Cataracts. Sources: Literature Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3C2A were set to 31034465 Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, 618440 Review for gene: PIK3C2A was set to RED Added comment: PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included "dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status. Sources: Literature |
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