Polydactyly
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 21 panels
2 reviews
Anand Vasudevan (Royal Women's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Alstrom syndrome specifically does not cause polydactyly, and this is a distinguishing feature from BBS.Created: 15 Jan 2020, 6:12 a.m. | Last Modified: 15 Jan 2020, 6:12 a.m.
Panel Version: 0.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome, MIM#203800
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Alstrom syndrome, MIM#203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Monogenic Diabetes
- Liver Failure_Paediatric
- Proteinuria
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Bardet Biedl syndrome
- Dyslipidaemia
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Severe early-onset obesity
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alms1 has been classified as Red List (Low Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM#203800
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alms1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ALMS1 was added gene: ALMS1 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALMS1 was set to Unknown