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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 29 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: I have found very limited evidence of RET-related recessive disease - 2 cases of severe Hirschsprung disease, and no cases with biallelic RET variants and renal agenesis. Hence, the MOI should be changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted at the next update.
Created: 20 May 2026, 1:13 p.m. | Last Modified: 20 May 2026, 1:13 p.m.
Panel Version: 7.8
Biallelic cases:
PMID: 34267336 Arteche-López et al., 2021
Male proband, diagnosed with Hirschsprung disease at birth, severe enterocolitis and abdominal sepsis resulted in complete colonic removal. Similarly affected brother. Both sibs were homozygous for RET c.1711G>A p.(Asp571Asn) variant. Asymptomatic parents were het carriers. 7 hets in gnomAD v4, no homozygotes. Conflicting classification in ClinVar (VUS/LB).

PMID: 9090527 Seri et al., 1997
Homozygous RET c.938G>A, p.R313Q mutation identified in a child born of consanguineous parents is associated with the most severe Hirschsprung phenotype (total colonic aganglionosis with small bowel involvement). Healthy first-cousin parents were heterozygous for the variant. 45 heterozygotes reported in gnomAD v4 with this variant; no homozygotes. VUS in ClinVar.
Created: 20 May 2026, 1:10 p.m. | Last Modified: 20 May 2026, 1:10 p.m.
Panel Version: 7.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hirschsprung disease, susceptibility to, 1}, OMIM:142623

Publications

Created: 20 May 2026, 1:10 p.m.
Last Modified: 20 May 2026, 1:10 p.m.
Panel version: 7.8

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Moin Saleem (University of Bristol). Outcome of review: Rate as Green.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'Both DD and IF' for RENAL AGENESIS and MULTIPLE ENDOCRINE NEOPLASIA IIB.
Created: 6 Dec 2018, 9:42 a.m.
In the original PAGE file, MOP listed as LOF for RENAL AGENESIS and listed as Activating for MULTIPLE ENDOCRINE NEOPLASIA IIB.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.311

History Filter Activity

20 May 2026, Gel status: 3

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: RET were set to

20 May 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_26_MOI tag was added to gene: RET.

25 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to RET. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to RET. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MULTIPLE ENDOCRINE NEOPLASIA IIB for gene: RET

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RET was added gene: RET was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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