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| DDG2P v3.32 | CLN6 | Achchuthan Shanmugasundram Phenotypes for gene: CLN6 were changed from CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 to CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.32 | CLN6 | Achchuthan Shanmugasundram Phenotypes for gene: CLN6 were changed from CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300; CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780 to CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.31 | CLN6 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201). The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201). The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively. |
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| DDG2P v3.12 | CLN6 | Achchuthan Shanmugasundram reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11727201, 15996215, 11791207; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLN6 | Achchuthan Shanmugasundram Publications for gene: CLN6 were updated from to 11727201; 15996215; 11791207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | CLN6 | Rebecca Foulger commented on gene: CLN6: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | CLN6 |
Rebecca Foulger Source Expert Review Green was added to CLN6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | CLN6 | Rebecca Foulger commented on gene: CLN6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | CLN6 | Rebecca Foulger commented on gene: CLN6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6;CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | CLN6 |
Rebecca Foulger Source Expert Review Amber was added to CLN6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | CLN6 | Rebecca Foulger reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CLN6 | Rebecca Foulger Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300 for gene: CLN6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CLN6 |
Rebecca Foulger gene: CLN6 was added gene: CLN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780 |
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