FANCM

FA complementation group M
OMIM: 609644, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red FANCM in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia
Tags
  • refuted

Red FANCM in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia
Tags
  • refuted

Green FANCM in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spermatogenic failure 28, MIM# 618086
  • Premature ovarian failure 15 MIM#618096

Red FANCM in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia
Tags
  • refuted

Red FANCM in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia
Tags
  • refuted

Green FANCM in Homologous_recombination_deficiency_WTS_UMCCR


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Expert list
  • Expert Review Green
Tags
  • umccr

Green FANCM in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health QLD
  • Victorian Clinical Genetics Services
Phenotypes
  • Premature ovarian failure 15 MIM#618096

Red FANCM in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Fanconi anaemia

Red FANCM in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia
Tags
  • refuted

Red FANCM in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia
Tags
  • refuted

Amber FANCM in IBMDx study


Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • FA-like syndromes, chemotherapy toxicity

Red FANCM in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Fanconi anaemia

Green FANCM in Infertility and Recurrent Pregnancy Loss


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 15, MIM# 618096
  • Spermatogenic failure 28, MIM# 618086