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Severe Paediatric Disorders

Gene: ALB

Green List (high evidence)

ALB (albumin)
EnsemblGeneIds (GRCh38): ENSG00000163631
EnsemblGeneIds (GRCh37): ENSG00000163631
OMIM: 103600, Gene2Phenotype
ALB is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: MOI rectified from 'X-linked' to 'Both mono- and biallelic'. Autosomal gene associated with congenial analbuminemia (recessive phenotype, MIM# 616000) and familial dysalbuminaemic hyperthyroxinaemia (mostly dominant phenotype with single recessive case, MIM# 615999).
Created: 7 Feb 2022, 3:20 p.m. | Last Modified: 7 Feb 2022, 3:20 p.m.
Panel Version: 1.117

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ALB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Analbuminemia, 616000 (3) | [Dysalbuminemic hyperthyroxinemia], 615999 (3); Mode of inheritance: ND | ND
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Analbuminemia, OMIM:616000
  • [Dysalbuminemic hyperthyroxinemia], OMIM:615999
  • ?[Dysalbuminemic hypertriiodothyroninemia], OMIM:615999
OMIM
103600
Clinvar variants
Variants in ALB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ALB was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Feb 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ALB were changed from Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 to Analbuminemia, OMIM:616000; [Dysalbuminemic hyperthyroxinemia], OMIM:615999; ?[Dysalbuminemic hypertriiodothyroninemia], OMIM:615999

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ALB was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ALB were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ALB.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ALB. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ALB was added gene: ALB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ALB was set to