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Newborns main panel

Gene: IGHM

Green List (high evidence)
IGHM (immunoglobulin heavy constant mu)
EnsemblGeneIds (GRCh38): ENSG00000211899
EnsemblGeneIds (GRCh37): ENSG00000211899
OMIM: 147020, Gene2Phenotype
IGHM is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

This gene does not have a MANE transcript. The transcript that will be used is ENST00000637539.2 as this has a longer coding sequence and also has the Ensembl canonical and GENCODE basic tags.
Created: 27 Jul 2023, 12:49 p.m. | Last Modified: 27 Jul 2023, 1:07 p.m.
Panel Version: 0.224
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:5541
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 27 Jul 2023, 1:07 p.m.
Panel version: 0.224

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 1
Transcripts
  • ENST00000637539.2
OMIM
147020
Clinvar variants
Variants in IGHM
Penetrance
None
Panels with this gene

History Filter Activity

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IGHM were changed from Agammaglobulinemia 1 to Agammaglobulinaemia 1

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 1 for gene: IGHM

27 Jul 2023, Gel status: 3

Set transcript

Mafalda Gomes (Genomics England Curator)

Transcript for gene IGHM was changed from None to ENST00000637539.2

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 1 for gene: IGHM

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 1 for gene: IGHM

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IGHM. Added phenotypes Agammaglobulinemia 1 for gene: IGHM Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to IGHM. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 1 for gene: IGHM

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IGHM was added gene: IGHM was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal