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Fetal anomalies

Gene: SLC4A4

Red List (low evidence)

SLC4A4 (solute carrier family 4 member 4)
EnsemblGeneIds (GRCh38): ENSG00000080493
EnsemblGeneIds (GRCh37): ENSG00000080493
OMIM: 603345, Gene2Phenotype
SLC4A4 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

SLC4A4 was re-reviewed by Anna de Burca (Genomics England clinical team) to determine if patients presented with cataracts. Anna notes that there aren’t very many published cases and not all had cataracts. Of those that did, PMID:16636648 cataracts were definitely not congenital and in PMID:11131345 they were only picked up at 4 years so probably not congenital either. Therefore appropriate to remain Red.
Created: 8 Aug 2019, 1:45 p.m. | Last Modified: 8 Aug 2019, 1:45 p.m.
Panel Version: 0.328
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC4A4 gene rating from Green to Red.
Created: 30 Apr 2019, 8:24 a.m.
DDG2P rating in original PAGE list: Confirmed for PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
OMIM
603345
Clinvar variants
Variants in SLC4A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC4A4 were set to

30 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to SLC4A4. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SLC4A4 was added gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES