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  2. Hydrops fetalis
  3. ESCO2
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Hydrops fetalis

Gene: ESCO2

Red List (low evidence)
ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000171320
EnsemblGeneIds (GRCh37): ENSG00000171320
OMIM: 609353, Gene2Phenotype
ESCO2 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case report, diagnosis of Roberts syndrome not molecularly confirmed. Pregnancy complicated by T18 in other twin.
Sources: Expert list
Created: 22 Aug 2020, 2:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts syndrome, MIM# 268300

Publications

Created: 22 Aug 2020, 2:16 a.m.

Panel version: 0.172

History Filter Activity

22 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: esco2 has been classified as Red List (Low Evidence).

22 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ESCO2 was added gene: ESCO2 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 16547991 Phenotypes for gene: ESCO2 were set to Roberts syndrome, MIM# 268300 Review for gene: ESCO2 was set to RED