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  2. Pierre Robin Sequence
  3. ALX4
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Pierre Robin Sequence

Gene: ALX4

Amber List (moderate evidence)
ALX4 (ALX homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000052850
EnsemblGeneIds (GRCh37): ENSG00000052850
OMIM: 605420, Gene2Phenotype
ALX4 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Phenotypes
Frontonasal dysplasia 2, MIM# 613451

Created: 10 Feb 2021, 4:54 a.m.
Last Modified: 10 Feb 2021, 4:54 a.m.
Panel version: 0.18

Tiong Tan (Victorian Clinical Genetics Services)

I don't know

This is a FND phenotype with cleft alae nasi. PRS criteria not fulfilled
Created: 10 Feb 2021, 3:59 a.m. | Last Modified: 10 Feb 2021, 3:59 a.m.
Panel Version: 0.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FRONTONASAL DYSPLASIA 2; FND2 with alopecia

Publications

Created: 10 Feb 2021, 3:59 a.m.
Last Modified: 10 Feb 2021, 3:59 a.m.
Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 2, MIM# 613451
  • FND2 with alopecia
OMIM
605420
Clinvar variants
Variants in ALX4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451; FND2 with alopecia

10 Feb 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALX4 were set to

10 Feb 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: alx4 has been classified as Amber List (Moderate Evidence).

10 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: alx4 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALX4 was added gene: ALX4 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALX4 was set to Unknown