Activity
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18 actions
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| Pulmonary arterial hypertension v4.11 | FLNA | Ida Ertmanska Tag Q2_26_NHS_review tag was added to gene: FLNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.11 | FLNA | Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated individuals with monoallelic variants in FLNA and pulmonary hypertension. Hemizygous male and heterozygous females are affected (with variable penetrance and age of onset). Based on available evidence, this gene should be promoted to Green at the next update.; to: Comment on list classification: As reviewed by Karen Stals, there are more than 3 unrelated individuals with monoallelic variants in FLNA and pulmonary hypertension. Hemizygous male and heterozygous females are affected (with variable penetrance and age of onset). Based on available evidence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.11 | FLNA | Ida Ertmanska Publications for gene: FLNA were set to 40641615; 39510553; 30547349; 28457522 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.10 | FLNA | Ida Ertmanska edited their review of gene: FLNA: Changed publications to: 40641615, 39510553, 30557962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.10 | FLNA |
Ida Ertmanska changed review comment from: PMID: 40641615 Cai et al., 2025 29yo female (Chinese?) patient with pulmonary hypertension and a heterozygous de novo FLNA c.718 C > T, p.Q240* variant. She presented with telangiectasia, cyanosis of the lips, and hypermobility. At the age of 12, she was diagnosed with precapillary pulmonary hypertension, and patent ductus arteriosus (PDA). PMID: 39510553 Stourm et al., 2025 Report of 9 French patients (8 female) with moderate to severe pre-capillary pulmonary hypertension, diagnosed at 0-69 years (median 36 years). Associated conditions included epilepsy (n=5), PVNH (n=7), valvular heart disease (n=8), congenital heart diseases (n=4), thrombocytopenia (n=4) and hyperlaxity (n=4). All patients carried LOF FLNA variants: stop-gain, frameshift, canonical splice - all P/LP according to ACMG criteria. FLNA is associated with multiple X-linked (dominant and recessive) disease entities in OMIM. Pulmonary incompetence is a feature of several FLNA-related disorders, e.g., Cardiac valvular dysplasia, X-linked, OMIM:314400.; to: PMID: 40641615 Cai et al., 2025 29yo female (Chinese?) patient with pulmonary hypertension and a heterozygous de novo FLNA c.718 C > T, p.Q240* variant. She presented with telangiectasia, cyanosis of the lips, and hypermobility. At the age of 12, she was diagnosed with precapillary pulmonary hypertension, and patent ductus arteriosus (PDA). PMID: 39510553 Stourm et al., 2025 Report of 9 French patients (8 female) with moderate to severe pre-capillary pulmonary hypertension, diagnosed at 0-69 years (median 36 years). Associated conditions included epilepsy (n=5), PVNH (n=7), valvular heart disease (n=8), congenital heart diseases (n=4), thrombocytopenia (n=4) and hyperlaxity (n=4). All patients carried LOF FLNA variants: stop-gain, frameshift, canonical splice - all P/LP according to ACMG criteria. PMID: 30557962 Calcaterra et al., 2018 Progressive pulmonary disease in a male infant harbouring a FLNA c.7391_7403del; (p.Val2464AlafsTer5) variant. He developed significant lung disease resulting in emphysematous lesions and perivascular and interstitial fibrosis. He also exhibited general muscular hypotonia, bilateral inguinal hernia, and deformities of the lower limbs (pes tortus congenitalis and hip dysplasia). Brain MRI showed periventricular nodular heterotopia. FLNA is associated with multiple X-linked (dominant and recessive) disease entities in OMIM. Pulmonary incompetence is a feature of several FLNA-related disorders, e.g., Cardiac valvular dysplasia, X-linked, OMIM:314400. |
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| Pulmonary arterial hypertension v4.10 | FLNA | Ida Ertmanska Mode of pathogenicity for gene: FLNA was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.9 | FLNA | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: FLNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.9 | FLNA | Ida Ertmanska edited their review of gene: FLNA: Changed phenotypes to: pulmonary hypertension, MONDO:0005149, Cardiac valvular dysplasia, X-linked, OMIM:314400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.9 | FLNA |
Ida Ertmanska changed review comment from: PMID: 40641615 Cai et al., 2025 29yo female (Chinese?) patient with pulmonary hypertension and a heterozygous de novo FLNA c.718 C > T, p.Q240* variant. She presented with telangiectasia, cyanosis of the lips, and hypermobility. At the age of 12, she was diagnosed with precapillary pulmonary hypertension, and patent ductus arteriosus (PDA). PMID: 39510553 Stourm et al., 2025 Report of 9 French patients (8 female) with moderate to severe pre-capillary pulmonary hypertension, diagnosed at 0-69 years (median 36 years). Associated conditions included epilepsy (n=5), PVNH (n=7), valvular heart disease (n=8), congenital heart diseases (n=4), thrombocytopenia (n=4) and hyperlaxity (n=4). All patients carried LOF FLNA variants: stop-gain, frameshift, canonical splice - all P/LP according to ACMG criteria.; to: PMID: 40641615 Cai et al., 2025 29yo female (Chinese?) patient with pulmonary hypertension and a heterozygous de novo FLNA c.718 C > T, p.Q240* variant. She presented with telangiectasia, cyanosis of the lips, and hypermobility. At the age of 12, she was diagnosed with precapillary pulmonary hypertension, and patent ductus arteriosus (PDA). PMID: 39510553 Stourm et al., 2025 Report of 9 French patients (8 female) with moderate to severe pre-capillary pulmonary hypertension, diagnosed at 0-69 years (median 36 years). Associated conditions included epilepsy (n=5), PVNH (n=7), valvular heart disease (n=8), congenital heart diseases (n=4), thrombocytopenia (n=4) and hyperlaxity (n=4). All patients carried LOF FLNA variants: stop-gain, frameshift, canonical splice - all P/LP according to ACMG criteria. FLNA is associated with multiple X-linked (dominant and recessive) disease entities in OMIM. Pulmonary incompetence is a feature of several FLNA-related disorders, e.g., Cardiac valvular dysplasia, X-linked, OMIM:314400. |
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| Pulmonary arterial hypertension v4.9 | FLNA | Ida Ertmanska Classified gene: FLNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.9 | FLNA | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals with monoallelic variants in FLNA and pulmonary hypertension. Hemizygous male and heterozygous females are affected (with variable penetrance and age of onset). Based on available evidence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.9 | FLNA | Ida Ertmanska Gene: flna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.8 | FLNA | Ida Ertmanska Phenotypes for gene: FLNA were changed from Pulmonary hypertension; respiratory failure to pulmonary hypertension, MONDO:0005149; Cardiac valvular dysplasia, X-linked, OMIM:314400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.7 | FLNA | Ida Ertmanska Publications for gene: FLNA were set to PMID: 30547349; PMID: 28457522 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.6 | FLNA | Ida Ertmanska Mode of inheritance for gene: FLNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.5 | FLNA | Ida Ertmanska edited their review of gene: FLNA: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.5 | FLNA | Ida Ertmanska reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 40641615, 39510553; Phenotypes: pulmonary hypertension, MONDO:0005149; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.5 | FLNA |
Karen Stals gene: FLNA was added gene: FLNA was added to Pulmonary arterial hypertension. Sources: Literature Mode of inheritance for gene: FLNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNA were set to PMID: 30547349; PMID: 28457522 Phenotypes for gene: FLNA were set to Pulmonary hypertension; respiratory failure Review for gene: FLNA was set to GREEN gene: FLNA was marked as current diagnostic Added comment: Multiple papers report loss of function FLNA variants as a cause of neonatal/childhood pulmonary hypertension (see PMID: 30547349), GeneReviews FLNA deficiency page lists pulmonary findings including pulmonary hypertension in list of clinical features. Sources: Literature |
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