1. Panels
  2. Fetal anomalies
  3. ALB
Genes in panel
Prev Next

Fetal anomalies

Gene: ALB

Red List (low evidence)
ALB (albumin)
EnsemblGeneIds (GRCh38): ENSG00000163631
EnsemblGeneIds (GRCh37): ENSG00000163631
OMIM: 103600, Gene2Phenotype
ALB is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

Minimal evidence that the disorder would ever present prenatally. Oligohydramnios and placental abnormalities quoted, but neither of these would get R21. Surprisingly does not appear to present with hydrops, and not in the NIHF review. Of the three papers referenced, two do not actually have any molecular evidence, and this is not the only gene causing hypoalbuminaemia. Evidence green for gene, red for R21
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Analbuminemia, OMIM:616000

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Analbuminemia, OMIM:616000
OMIM
103600
Clinvar variants
Variants in ALB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ALB was added gene: ALB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALB were set to 31057599; 15300429; 23730173 Phenotypes for gene: ALB were set to Analbuminemia, OMIM:616000