Skeletal Dysplasia_Fetal
Gene: EN1EnsemblGeneIds (GRCh38): ENSG00000163064
EnsemblGeneIds (GRCh37): ENSG00000163064
OMIM: 131290, Gene2Phenotype
EN1 is in 4 panels
2 reviews
Krithika Murali (Victorian Clinical Genetics Services)
Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Expert list, LiteratureCreated: 22 Nov 2021, 6:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?ENDOVE syndrome, limb-brain type - OMIM#619218
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: LiteratureCreated: 4 Mar 2021, 11 p.m. | Last Modified: 4 Mar 2021, 11:13 p.m.
Panel Version: 0.46
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Expert list
- Expert Review Green
- Literature
- Phenotypes
-
- ENDOVE syndrome, limb-only type, MIM# 619217
- ENDOVE syndrome, limb-brain type, MIM# 619218
- Tags
- OMIM
- 131290
- Clinvar variants
- Variants in EN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: en1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: en1 has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EN1 was added gene: EN1 was added to Skeletal Dysplasia_Fetal. Sources: Literature SV/CNV, 5'UTR tags were added to gene: EN1. Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EN1 were set to 33568816 Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217 Review for gene: EN1 was set to GREEN