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Fetal anomalies v5.16 EFEMP1 Achchuthan Shanmugasundram commented on gene: EFEMP1
Fetal anomalies v5.15 EFEMP1 Esther Kinning reviewed gene: EFEMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17872905, 32006683, 33807164, 31792352, 22489068; Phenotypes: Cutis laxa, autosomal recessive, type ID, MIM#620780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.13 EFEMP1 Achchuthan Shanmugasundram gene: EFEMP1 was added
gene: EFEMP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EFEMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP1 were set to 33807164; 17872905; 22489068; 32006683; 31792352
Phenotypes for gene: EFEMP1 were set to Cutis laxa, autosomal recessive, type ID, OMIM:620780