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Severe Paediatric Disorders

Gene: SLC4A1

Green List (high evidence)

SLC4A1 (solute carrier family 4 member 1 (Diego blood group))
EnsemblGeneIds (GRCh38): ENSG00000004939
EnsemblGeneIds (GRCh37): ENSG00000004939
OMIM: 109270, Gene2Phenotype
SLC4A1 is in 10 panels

1 review

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: SLC4A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cryohydrocytosis, 185020 (3) | Ovalocytosis, SA type, 166900 (3) | Renal tubular acidosis, distal, AD, 179800 (3) | Renal tubular acidosis, distal, AR, 611590 (3) | Spherocytosis, type 4, 612653 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 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
  • Renal tubular acidosis, distal, AR, 611590
  • Cryohydrocytosis, 185020
  • Spherocytosis, type 4, 612653
  • Ovalocytosis, SA type, 166900
  • Renal tubular acidosis, distal, AD, 179800
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC4A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800; Cryohydrocytosis, 185020; Renal tubular acidosis, distal, AR, 611590; Spherocytosis, type 4, 612653 for gene: SLC4A1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC4A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC4A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC4A1. 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: SLC4A1 was added gene: SLC4A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC4A1 was set to