MFSD2A

major facilitator superfamily domain containing 2A
OMIM: 614397, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green MFSD2A in Mendeliome Version 1.3490	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 15, primary, autosomal recessive, MIM# 616486
Green MFSD2A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.353	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 15, primary, autosomal recessive, MIM# 616486
Green MFSD2A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephaly 15, primary, autosomal recessive, MIM# 616486
Green MFSD2A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive
Green MFSD2A in Fetal anomalies Version 1.462	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, MIM# 616486
Green MFSD2A in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486