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BabyScreen+ newborn screening

Gene: SIX3

Red List (low evidence)

SIX3 (SIX homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000138083
EnsemblGeneIds (GRCh37): ENSG00000138083
OMIM: 603714, Gene2Phenotype
SIX3 is in 12 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Established gene-disease association.

Childhood onset, multi-system disorder.

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed
Created: 31 Oct 2022, 8:18 a.m. | Last Modified: 31 Oct 2022, 8:18 a.m.
Panel Version: 0.706

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 2, MIM# 157170

History Filter Activity

31 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: six3 has been classified as Red List (Low Evidence).

31 Oct 2022, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SIX3 were changed from Holoprosencephaly-2 to Holoprosencephaly 2, MIM# 157170

31 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: six3 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SIX3 was added gene: SIX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX3 were set to Holoprosencephaly-2