Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: RTEL1

Red List (low evidence)

RTEL1 (regulator of telomere elongation helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 18 panels

0 reviews

History Filter Activity

19 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RTEL1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list

29 Oct 2015, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene RTEL1 were set to Dyskeratosis Congenita, Autosomal Dominant, 4; Dyskeratosis Congenita, Autosomal Recessive, 5

29 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RTEL1 was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RTEL1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN