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Ehlers Danlos syndrome with a likely monogenic cause v2.68 LTBP1 Mafalda Gomes Tag Q3_21_rating was removed from gene: LTBP1.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 LTBP1 Achchuthan Shanmugasundram reviewed gene: LTBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v2.63 LTBP1 Eleanor Williams Classified gene: LTBP1 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause v2.63 LTBP1 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber with a recommendation for green rating following GMS review. 3 families reported where joint hyperlaxity is noted.
Ehlers Danlos syndrome with a likely monogenic cause v2.63 LTBP1 Eleanor Williams Gene: ltbp1 has been classified as Amber List (Moderate Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v2.62 LTBP1 Eleanor Williams Phenotypes for gene: LTBP1 were changed from Cutis laxa; craniofacial dysmorphism; altered skeletal development, including short stature; brachydactyly; clinodactyly to Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Joint hyperlaxity
Ehlers Danlos syndrome with a likely monogenic cause v2.61 LTBP1 Eleanor Williams Publications for gene: LTBP1 were set to PMID: 33991472
Ehlers Danlos syndrome with a likely monogenic cause v2.60 LTBP1 Eleanor Williams Tag Q3_21_rating tag was added to gene: LTBP1.
Ehlers Danlos syndrome with a likely monogenic cause v2.60 LTBP1 Eleanor Williams edited their review of gene: LTBP1: Changed rating: GREEN; Changed publications to: 33991472; Changed phenotypes to: Cutis laxa, autosomal recessive, type IIE, OMIM:619451, Joint hyperlaxity; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v2.60 LTBP1 Eleanor Williams commented on gene: LTBP1
Ehlers Danlos syndrome with a likely monogenic cause v2.57 LTBP1 Andžela Lazdāne edited their review of gene: LTBP1: Changed phenotypes to: Cutis laxa, Craniofacial dysmorphism, Altered skeletal development, including short stature, Brachydactyly, Clinodactyly
Ehlers Danlos syndrome with a likely monogenic cause v2.57 LTBP1 Andžela Lazdāne changed review comment from: Based on the literature homozygous premature truncating LTBP1 variants was reported in eight affected individuals with connective tissue features. In vivo validation with two independent zebrafish lines carrying mutations in LTBP1 induce abnormal collagen fibrillogenesis in skin and intervertebral ligaments and ectopic bone formation on the vertebrae.
Sources: Literature; to: Based on the literature homozygous premature truncating LTBP1 variants was reported in eight affected individuals with connective tissue features. In vivo validation with two independent zebrafish lines carrying mutations in LTBP1 induce abnormal collagen fibrillogenesis in skin and intervertebral ligaments and ectopic bone formation on the vertebrae.
Sources: Literature
Ehlers Danlos syndrome with a likely monogenic cause v2.57 LTBP1 Andžela Lazdāne gene: LTBP1 was added
gene: LTBP1 was added to Ehlers Danlos syndromes. Sources: Literature
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to PMID: 33991472
Phenotypes for gene: LTBP1 were set to Cutis laxa; craniofacial dysmorphism; altered skeletal development, including short stature; brachydactyly; clinodactyly
Penetrance for gene: LTBP1 were set to Complete
Review for gene: LTBP1 was set to GREEN
Added comment: Based on the literature homozygous premature truncating LTBP1 variants was reported in eight affected individuals with connective tissue features. In vivo validation with two independent zebrafish lines carrying mutations in LTBP1 induce abnormal collagen fibrillogenesis in skin and intervertebral ligaments and ectopic bone formation on the vertebrae.
Sources: Literature