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  3. SPTA1
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Anaemias and red cell disorders

Gene: SPTA1

Red List (low evidence)
SPTA1 (spectrin alpha, erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000163554
EnsemblGeneIds (GRCh37): ENSG00000163554
OMIM: 182860, Gene2Phenotype
SPTA1 is in 3 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
RBC membrane abnormality; Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal); Spherocytosis (BIALLELIC, autosomal or pseudoautosomal)

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:47 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
  • Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal)
  • Spherocytosis (BIALLELIC, autosomal or pseudoautosomal)
OMIM
182860
Clinvar variants
Variants in SPTA1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 0

Approved Gene

Louise Daugherty (Genomics England Curator)

This proposed gene was validated and added to this panel

16 Jan 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SPTA1 was created by BRIDGE

16 Jan 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SPTA1 was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)