PLS3

plastin 3
OMIM: 300131, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PLS3 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	Unknown	Sources Literature Expert list Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green PLS3 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Diaphragmatic hernia 5, X-linked, MIM# 306950
Green PLS3 in Mendeliome Version 1.3512	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone mineral density QTL18, osteoporosis - MIM#300910 Diaphragmatic hernia 5, X-linked, MIM# 306950
Green PLS3 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 1.8	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes X-linked osteoporosis with fractures MONDO:0018315
Green PLS3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Expert Review NHS GMS Victorian Clinical Genetics Services Phenotypes Bone mineral density QTL18, osteoporosis 300910
Green PLS3 in Fetal anomalies Version 1.465	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Expert list Phenotypes Bone mineral density QTL18, osteoporosis - MIM#300910 Diaphragmatic hernia 5, X-linked, MIM# 306950
Green PLS3 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Bone mineral density QTL18, osteoporosis - MIM#300910 Tags treatable skeletal
Green PLS3 in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone mineral density QTL18, osteoporosis