EIF4A3

eukaryotic translation initiation factor 4A3
OMIM: 608546, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green EIF4A3 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14	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 1.2512	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 0.49	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 1.118	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 Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.264	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 1.321	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 1.14	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 Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.49	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 1.118	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 0.264	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 0.256	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