SEC24D

SEC24 homolog D, COPII coat complex component
OMIM: 607186, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SEC24D in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cole-Carpenter syndrome 2, MIM# 616294
Green SEC24D in Mendeliome Version 1.1902	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 Version 0.114	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 0.285	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 0.252	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 1.255	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 Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 2, MIM# 616294