Macrocephaly_Megalencephaly
Gene: A2ML1EnsemblGeneIds (GRCh38): ENSG00000166535
EnsemblGeneIds (GRCh37): ENSG00000166535
OMIM: 610627, Gene2Phenotype
A2ML1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated individuals reported with de novo missense variants in this gene, zebrafish model. However, p.Arg802His is present in 168 heterozygotes in gnomad and one homozygote; p.Arg802Leu is also present in 168 heterozygotes, 1 homozygote; and p.Arg592Leu is present in 105 heterozygotes. Rated as DISPUTED by ClinGen.Created: 3 Jul 2020, 9:59 a.m. | Last Modified: 3 Jul 2020, 9:59 a.m.
Panel Version: 0.36
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Noonan syndrome
- OMIM
- 610627
- Clinvar variants
- Variants in A2ML1
- 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: a2ml1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: A2ML1 were changed from to Noonan syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: A2ML1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: A2ML1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: a2ml1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: a2ml1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: a2ml1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: A2ML1 was added gene: A2ML1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: A2ML1 was set to Unknown