BRIDGE_SPEED_NEURO_20170705
Gene: SLC4A1

SLC4A1 (solute carrier family 4 member 1 (Diego blood group))
EnsemblGeneIds (GRCh38): ENSG00000004939
EnsemblGeneIds (GRCh37): ENSG00000004939
OMIM: 109270, Gene2Phenotype
SLC4A1 is in 9 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : All missense/in frame
Created: 28 Jul 2017, 10:46 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

25529582
Version 12 ukgtn.nhs.uk

Mode of pathogenicity
Other

Created: 2 Aug 2017, 7:11 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Ovalocytosis
Spherocytosis, type 4, 612653
[Malaria, resistance to], 611162
Renal tubular acidosis, distal, AD, 179800
Renal tubular acidosis, distal, AR, 611590
[Blood group, Diego], 110500
[Blood group, Waldner], 112010
[Blood group, Wright], 112050
[Blood group, Froese], 601551
[Blood group, Swann], 601550

OMIM

109270

Clinvar variants

Variants in SLC4A1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SLC4A1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created