IQSEC2

IQ motif and Sec7 domain ArfGEF 2
OMIM: 300522, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green IQSEC2 in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	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 Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Green IQSEC2 in Autism Level 2: Neurology and neurodevelopmental disorders Version 1.0	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 Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Amber IQSEC2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	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 Amber Expert list Phenotypes Intellectual developmental disorder MIM#309530
Green IQSEC2 in Mendeliome Version 2.0	2 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 Intellectual developmental disorder, X-linked 1 MIM#309530
Green IQSEC2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Green IQSEC2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	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 Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Green IQSEC2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked 1, 309530 (3)
Red IQSEC2 in Fetal anomalies Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Green IQSEC2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 1 MIM#309530
Green IQSEC2 in Prepair 500+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 1 MIM#309530