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Fetal anomalies

Gene: RET

Green List (high evidence)
RET (ret proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 23 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Cannot find any evidence that cataracts are a feature of condtions caused by RET mutations.
Created: 15 Apr 2020, 3:50 a.m. | Last Modified: 15 Apr 2020, 3:50 a.m.
Panel Version: 0.123

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 15 Apr 2020, 3:50 a.m.
Last Modified: 15 Apr 2020, 3:50 a.m.
Panel version: Imported from Cataract panel version 0.123

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Megacolon is a feature.
Created: 9 Dec 2019, 7:06 p.m. | Last Modified: 1 Mar 2022, 12:16 a.m.
Panel Version: 0.4459

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Central hypoventilation syndrome, congenital, MIM#209880; Medullary thyroid carcinoma, MIM#155240; Multiple endocrine neoplasia IIA, MIM#171400; Multiple endocrine neoplasia IIB, MIM#162300

Created: 9 Dec 2019, 7:06 p.m.
Last Modified: 1 Mar 2022, 12:16 a.m.
Panel version: 0.4459

History Filter Activity

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ret has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RET were changed from RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB to Central hypoventilation syndrome, congenital, MIM#209880; Multiple endocrine neoplasia IIA, MIM#171400; Multiple endocrine neoplasia IIB, MIM#162300

1 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RET was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RET was added gene: RET was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RET were set to RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB