CC2D1A:Ensemblv90

coiled-coil and C2 domain containing 1A
OMIM: 610055, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CC2D1A in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 3, MIM# 608443
Green CC2D1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Autosomal recessive mental retardation, (MIM#608443)
Green CC2D1A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, autosomal recessive 3, 608443 (3)
Red CC2D1A in Fetal anomalies Version 1.482	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 3, MIM# 608443
Green CC2D1A in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 3, MIM# 608443
Green CC2D1A in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 3, MIM# 608443
Green CC2D1A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Mental retardation, autosomal recessive 3, 608443 (3)
Green CC2D1A in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 3, MIM# 608443
Green CC2D1A in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Mackenzie's Mission Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 3, MIM# 608443