FAM111A

family with sequence similarity 111 member A
OMIM: 615292, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green FAM111A in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	Unknown	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green FAM111A in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.50	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kenny-Caffey syndrome, type 2, MIM@ 127000
Green FAM111A in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.99 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000
Green FAM111A in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Green FAM111A in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Phenotypes autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Red FAM111A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000
Green FAM111A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Radboud University Medical Center, Nijmegen NHS GMS Phenotypes Gracile bone dysplasia 602361 Kenny-Caffey syndrome, type 2 127000
Green FAM111A in Microcephalic Primordial Dwarfism and Slender bone dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.29	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Gracile bone dysplasia 602361 Kenny-Caffey syndrome, type 2 127000
Red FAM111A in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen Expert list Phenotypes 602361 Gracile bone dysplasia
Green FAM111A in Growth failure Version 1.83	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Kenny-Caffey syndrome, type 2, MIM@ 127000
Green FAM111A in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000
Green FAM111A in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000 Tags treatable skeletal
Green FAM111A in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Magnesium v38.1.0 Expert Review Green Phenotypes autosomal dominant Kenny-Caffey syndrome MONDO:0007478