Fetal anomalies
Gene: LMNA
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted LMNA gene rating from Amber to Green.Created: 24 Mar 2019, 9:26 p.m.
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.Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both 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 and HEART-HAND SYNDROME SLOVENIAN TYPE.Created: 6 Dec 2018, 10:07 a.m.
In the original PAGE file, MOP listed as Uncertain for CARDIOMYOPATHY DILATED TYPE 1A, CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED, MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B, and HEART-HAND SYNDROME SLOVENIAN TYPE. MOP listed as Activating for HUTCHINSON-GILFORD PROGERIA SYNDROME and LETHAL TIGHT SKIN CONTRACTURE SYNDROME. MOP Listed as LOF for EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2.Created: 8 Nov 2018, 4:45 p.m.
Source Expert Review Green was added to LMNA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source Expert Review Amber was added to LMNA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added phenotypes HEART-HAND SYNDROME SLOVENIAN TYPE for gene: LMNA
Added phenotypes LETHAL TIGHT SKIN CONTRACTURE SYNDROME for gene: LMNA
Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B for gene: LMNA
Added phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 for gene: LMNA
Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY for gene: LMNA
Added phenotypes MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED for gene: LMNA
Added phenotypes HUTCHINSON-GILFORD PROGERIA SYNDROME for gene: LMNA
Added phenotypes CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 for gene: LMNA
Added phenotypes FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 for gene: LMNA
Added phenotypes CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM for gene: LMNA
gene: LMNA was added gene: LMNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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