Macrocephaly_Megalencephaly
Gene: DICER1EnsemblGeneIds (GRCh38): ENSG00000100697
EnsemblGeneIds (GRCh37): ENSG00000100697
OMIM: 606241, Gene2Phenotype
DICER1 is in 8 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
PMID 27441995 - 28 DICER1 carriers were macrocephalic (42% of the NCI natural history cohort) versus 12% family controls [statistically significant]. Association independent of height and gender. The authors note this is a subtle but important phenotypic feature which would allow for initiation of cancer surveillance earlier, as with PTEN carriers.
Sources: LiteratureCreated: 24 Nov 2021, 3:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
GLOW syndrome, somatic mosaic - OMIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - OMIM#38800; Pleuropulmonary blastoma - OMIM#601200; Rhabdomyosarcoma, embryonal, 2 - #180295
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- DICER1 syndrome, MONDO:0017288
- OMIM
- 606241
- Clinvar variants
- Variants in DICER1
- 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: dicer1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DICER1 were changed from GLOW syndrome, somatic mosaic - OMIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - OMIM#38800; Pleuropulmonary blastoma - OMIM#601200; Rhabdomyosarcoma, embryonal, 2 - #180295 to DICER1 syndrome, MONDO:0017288
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dicer1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: DICER1 was added gene: DICER1 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DICER1 were set to 27441995 Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic - OMIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - OMIM#38800; Pleuropulmonary blastoma - OMIM#601200; Rhabdomyosarcoma, embryonal, 2 - #180295 Review for gene: DICER1 was set to GREEN