Activity
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21 actions
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| Cleidocranial Dysplasia v2.2 | RUNX2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #119600) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v2.2 | RUNX2 | Achchuthan Shanmugasundram Phenotypes for gene: RUNX2 were changed from to Cleidocranial dysplasia, OMIM:119600; cleidocranial dysplasia 1, MONDO:0007340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2025-04-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v1.6 | CBFB |
Arina Puzriakova Tag Q2_24_promote_green was removed from gene: CBFB. Tag Q2_24_MOI was removed from gene: CBFB. Tag Q2_24_NHS_review was removed from gene: CBFB. |
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| Cleidocranial Dysplasia v1.6 | CBFB | Arina Puzriakova reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v1.5 | CBFB |
Arina Puzriakova Source Expert Review Green was added to CBFB. Source NHS GMS was added to CBFB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cleidocranial Dysplasia v1.4 | CBFB | Sarah Leigh Phenotypes for gene: CBFB were changed from cleidocranial dysplasia; dental anomalies such as supernumery teeth and eruption failure; developmental delay (variable); shortening of the distal phalanges to Cleidocranial dysplasia 2, OMIM:620099; cleidocranial dysplasia 2, MONDO:0859307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v1.3 | CBFB | Sarah Leigh Publications for gene: CBFB were set to PMID: 36241386 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v1.2 | CBFB |
Sarah Leigh Tag Q2_24_promote_green tag was added to gene: CBFB. Tag Q2_24_MOI tag was added to gene: CBFB. Tag Q2_24_NHS_review tag was added to gene: CBFB. |
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| Cleidocranial Dysplasia v1.2 | CBFB | Sarah Leigh Classified gene: CBFB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v1.2 | CBFB | Sarah Leigh Gene: cbfb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v1.1 | CBFB | Sarah Leigh reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v1.1 | CBFB |
Alistair Pagnamenta gene: CBFB was added gene: CBFB was added to Cleidocranial Dysplasia. Sources: Literature Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CBFB were set to PMID: 36241386 Phenotypes for gene: CBFB were set to cleidocranial dysplasia; dental anomalies such as supernumery teeth and eruption failure; developmental delay (variable); shortening of the distal phalanges Penetrance for gene: CBFB were set to Complete Review for gene: CBFB was set to GREEN gene: CBFB was marked as current diagnostic Added comment: Beyltjens et al describe 8 individuals from 5 families (ascertained via GeneMatcher) with cleidocranial dysplasia and rare severe consequence variants in CBFB. Previous analysis of RUNX2 had been negative. CBFB encodes the core-binding factor β subunit, which can interact with RUNX2 to form a heterodimeric transcription factor - so biologically was a good candidate gene, even before the Beyltjens et al study. Aware of data in 100kGP that supports this new gene-disease association. Sources: Literature |
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| Cleidocranial Dysplasia v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v0.3 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v0.1 | RUNX2 | Achchuthan Shanmugasundram reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cleidocranial Dysplasia v0.1 | RUNX2 |
Achchuthan Shanmugasundram gene: RUNX2 was added gene: RUNX2 was added to Cleidocranial Dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Cleidocranial Dysplasia v0.0 |
Achchuthan Shanmugasundram Added Panel Cleidocranial Dysplasia Set list of related panels to R415 Set panel types to: GMS Rare Disease |
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