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| DDG2P v3.36 | LMNA | Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.36 | LMNA | Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.36 | LMNA | Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660; CARDIOMYOPATHY DILATED TYPE 1A 115200; HUTCHINSON-GILFORD PROGERIA SYNDROME 176670; LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210; HEART-HAND SYNDROME SLOVENIAN TYPE 610140; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | LMNA |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060). The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively. The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.; to: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060). The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively. The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively. |
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| DDG2P v3.14 | LMNA |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060). The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060). The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively. The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively. |
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| DDG2P v3.12 | LMNA | Achchuthan Shanmugasundram reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655060, 10587585; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588, HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LMNA |
Achchuthan Shanmugasundram Mode of inheritance for gene LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNA were updated from to 10587585; 10655060 |
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| DDG2P v1.131 | LMNA | Rebecca Foulger commented on gene: LMNA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LETHAL TIGHT SKIN CONTRACTURE SYNDROME; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE;HUTCHINSON-GILFORD PROGERIA SYNDROME; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED;CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | LMNA |
Rebecca Foulger Source Expert Review Green was added to LMNA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | LMNA | Rebecca Foulger commented on gene: LMNA: 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 | LMNA | Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | LMNA |
Rebecca Foulger Source Expert Review Amber was added to LMNA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | LMNA | Rebecca Foulger reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes HEART-HAND SYNDROME SLOVENIAN TYPE 610140 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes HUTCHINSON-GILFORD PROGERIA SYNDROME 176670 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA |
Rebecca Foulger gene: LMNA was added gene: LMNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to CARDIOMYOPATHY DILATED TYPE 1A 115200 |
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