Mandibulofacial Acrofacial dysostosis
Gene: EIF4A3EnsemblGeneIds (GRCh38): ENSG00000141543
EnsemblGeneIds (GRCh37): ENSG00000141543
OMIM: 608546, Gene2Phenotype
EIF4A3 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Key features include microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, clubfeet and learning disability.
16/15/14 repeat expansions common. Typical features present in 16-repeat allele homozygotes and 16/15-repeat allele compound heterozygotes, milder features in compound hets for repeat expansion/missense.Created: 31 Jul 2021, 5:49 a.m. | Last Modified: 31 Jul 2021, 5:49 a.m.
Panel Version: 0.40
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 608546
- Clinvar variants
- Variants in EIF4A3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag STR tag was added to gene: EIF4A3.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eif4a3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EIF4A3 were changed from to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: EIF4A3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EIF4A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EIF4A3 was added gene: EIF4A3 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EIF4A3 was set to Unknown