ALMS1

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green ALMS1 in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM# 203800
Green ALMS1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM# 203800
Green ALMS1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Alstrom syndrome MIM#203800
Green ALMS1 in Proteinuria Level 2: Renal and urinary tract disorders Version 0.225 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services
Red ALMS1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM#203800
Green ALMS1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM# 203800
Green ALMS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Alstrom syndrome, MIM# 203800
Green ALMS1 in Dyslipidaemia Level 2: Endocrine disorders Version 0.41 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Alstrom syndrome
Green ALMS1 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alstrom syndrome MONDO:0008763
Green ALMS1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Alstrom syndrome
Green ALMS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alstrom syndrome, 203800 (3)
Green ALMS1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM# 203800
Green ALMS1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review NHS GMS Phenotypes OMIM 203800
Green ALMS1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Alstrom syndrome
Green ALMS1 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Alstrom syndrome, MIM# 203800
Green ALMS1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM# 203800
Green ALMS1 in Severe early-onset obesity Level 2: Endocrine disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, OMIM:203800
Green ALMS1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alstrom syndrome, 203800 (3)
Red ALMS1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Alstrom syndrome, MIM# 203800
Green ALMS1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alstrom syndrome
Green ALMS1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alstrom syndrome, 203800 (3)

ALMS1

21 panels

Green ALMS1 in Bardet Biedl syndrome

Sources

Phenotypes

Green ALMS1 in Ciliopathies

Sources

Phenotypes

Green ALMS1 in Mendeliome

Sources

Phenotypes

Green ALMS1 in Proteinuria

Sources

Red ALMS1 in Polydactyly

Sources

Phenotypes

Green ALMS1 in Deafness_IsolatedAndComplex

Sources

Phenotypes

Green ALMS1 in Intellectual disability syndromic and non-syndromic

Sources

Phenotypes

Green ALMS1 in Dyslipidaemia

Sources

Phenotypes

Green ALMS1 in Monogenic Diabetes

Sources

Phenotypes

Green ALMS1 in Syndromic Retinopathy

Sources

Phenotypes

Green ALMS1 in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Green ALMS1 in Deafness_Isolated

Sources

Phenotypes

Green ALMS1 in Cardiomyopathy_Paediatric

Sources

Phenotypes

Green ALMS1 in Additional findings_Paediatric

Sources

Phenotypes

Green ALMS1 in Liver Failure_Paediatric

Sources

Phenotypes

Green ALMS1 in Fetal anomalies

Sources

Phenotypes

Green ALMS1 in Severe early-onset obesity

Sources

Phenotypes

Green ALMS1 in Prepair 1000+

Sources

Phenotypes

Red ALMS1 in BabyScreen+ newborn screening

Sources

Phenotypes

Green ALMS1 in Transplant Co-Morbidity Superpanel

Sources

Phenotypes

Green ALMS1 in Prepair 500+

Sources

Phenotypes