EIF4A3

eukaryotic translation initiation factor 4A3
OMIM: 608546, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green EIF4A3 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robin sequence with cleft mandible and limb anomalies, MIM# 268305 Richieri-Costa-Pereira syndrome Tags STR
Green EIF4A3 in Mendeliome Version 2.588	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robin sequence with cleft mandible and limb anomalies, MIM# 268305 Richieri-Costa-Pereira syndrome Tags STR
Green EIF4A3 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robin sequence with cleft mandible and limb anomalies, MIM# 268305 Richieri-Costa-Pereira syndrome Tags STR
Green EIF4A3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Robin sequence with cleft mandible and limb anomalies, MIM# 268305 Richieri-Costa-Pereira syndrome Tags STR
Green EIF4A3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.151	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Robin sequence with cleft mandible and limb anomalies, MIM# 268305 Richieri-Costa-Pereira syndrome Tags STR
Green EIF4A3 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Richieri-Costa-Pereira syndrome Robin sequence with cleft mandible and limb anomalies, 268305 Cleft palate Tags STR
Green EIF4A3 in Fetal anomalies Version 2.81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Robin sequence with cleft mandible and limb anomalies, MIM# 268305 Richieri-Costa-Pereira syndrome Tags STR
Green EIF4A3_RCPS_complex STR in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Robin sequence with cleft mandible and limb anomalies MIM#268305 Richieri-Costa-Pereira syndrome
Green EIF4A3_RCPS_complex STR in Mendeliome Version 2.588	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Robin sequence with cleft mandible and limb anomalies MIM#268305 Richieri-Costa-Pereira syndrome Tags paediatric-onset
Green EIF4A3_RCPS_complex STR in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Robin sequence with cleft mandible and limb anomalies MIM#268305 Richieri-Costa-Pereira syndrome
Green EIF4A3_RCPS_complex STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Robin sequence with cleft mandible and limb anomalies MIM#268305 Richieri-Costa-Pereira syndrome
Green EIF4A3_RCPS_complex STR in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Robin sequence with cleft mandible and limb anomalies MIM#268305 Richieri-Costa-Pereira syndrome
Green EIF4A3_RCPS_complex STR in Repeat Disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Robin sequence with cleft mandible and limb anomalies MIM#268305 Richieri-Costa-Pereira syndrome Tags paediatric-onset