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Microcephaly

Gene: SMC1A

Green List (high evidence)

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

XLD. Well established gene-disease association. Microcephaly is part of the phenotype.
Sources: Expert list
Created: 3 Sep 2020, 8:51 a.m.

Mode of inheritance
Other

Phenotypes
Cornelia de Lange syndrome 2, MIM# 300590

History Filter Activity

3 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smc1a has been classified as Green List (High Evidence).

3 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smc1a has been classified as Green List (High Evidence).

3 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMC1A was added gene: SMC1A was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: SMC1A was set to Other Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM# 300590 Review for gene: SMC1A was set to GREEN