Multiple pterygium syndrome_Fetal akinesia sequence
Gene: ERBB3EnsemblGeneIds (GRCh38): ENSG00000065361
EnsemblGeneIds (GRCh37): ENSG00000065361
OMIM: 190151, Gene2Phenotype
ERBB3 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families reported with contractures, positional approach used in gene discovery (2007). Another family reported more recently with a multi-system disorder but without contractures.
Sources: LiteratureCreated: 14 Jun 2021, 6:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contractural syndrome 2, MIM# 607598
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Lethal congenital contractural syndrome 2, MIM# 607598
- OMIM
- 190151
- Clinvar variants
- Variants in ERBB3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ERBB3 was added gene: ERBB3 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 17701904; 31752936 Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, MIM# 607598 Review for gene: ERBB3 was set to AMBER