SEC24D:Ensemblv90

SEC24 homolog D, COPII coat complex component
OMIM: 607186, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green SEC24D in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.132	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cole-Carpenter syndrome 2, MIM# 616294
Green SEC24D in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 2, MIM# 616294
Green SEC24D in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders; Endocrine disorders Version 1.16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 2, MIM# 616294
Green SEC24D in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome SYNDROMIC OSTEOGENESIS IMPERFECTA Osteogenesis Imperfecta, Cole Carpenter syndrome
Red SEC24D in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	1 review	Unknown	Sources Expert Review Red Literature Phenotypes Cleft lip with or without cleft palate, MONDO:0016034, SEC24D-related
Green SEC24D in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Cole-Carpenter syndrome 2, MIM# 616294
Green SEC24D in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 2, MIM# 616294
Green SEC24D in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cole-Carpenter syndrome 2, MIM# 616294
Green SEC24D in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders; Endocrine disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Cole-Carpenter syndrome 2, MIM# 616294
Green SEC24D in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services NHS GMS Literature Expert Review Expert Review Green Expert Review Green Phenotypes Cole-Carpenter syndrome SYNDROMIC OSTEOGENESIS IMPERFECTA Osteogenesis Imperfecta, Cole Carpenter syndrome
Red SEC24D in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	Unknown	Sources Literature Expert Review Red Phenotypes Cleft lip with or without cleft palate, MONDO:0016034, SEC24D-related
Green SEC24D in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Genomics England PanelApp Expert Review Green Phenotypes Cole-Carpenter syndrome 2, MIM# 616294
Green SEC24D in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Cole-Carpenter syndrome 2, MIM# 616294