Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: IGHM

Green List (high evidence)

IGHM (immunoglobulin heavy constant mu)
EnsemblGeneIds (GRCh38): ENSG00000211899
EnsemblGeneIds (GRCh37): ENSG00000211899
OMIM: 147020, Gene2Phenotype
IGHM is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

RefSeq annotation issues. Specific rescue loop built to capture variants.
Created: 13 Sep 2023, 7:07 a.m. | Last Modified: 15 Sep 2023, 3:32 a.m.
Panel Version: 1.20
Well established gene-disease association.

Congenital onset.

Treatement: replacement immunoglobulin

Non-genetic confirmatory test: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile
Created: 7 Dec 2022, 11:06 p.m. | Last Modified: 7 Dec 2022, 11:06 p.m.
Panel Version: 0.1245

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinaemia 1, MIM# 601495

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Agammaglobulinaemia 1, MIM# 601495
Tags
treatable immunological technically challenging
OMIM
147020
Clinvar variants
Variants in IGHM
Penetrance
None
Panels with this gene

History Filter Activity

15 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ighm has been classified as Amber List (Moderate Evidence).

13 Sep 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag technically challenging tag was added to gene: IGHM.

7 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: IGHM. Tag immunological tag was added to gene: IGHM.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IGHM was added gene: IGHM was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHM were set to Agammaglobulinaemia 1, MIM# 601495