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Leukodystrophy - paediatric v0.194 PAFAH1B1 Zornitza Stark Marked gene: PAFAH1B1 as ready
Leukodystrophy - paediatric v0.194 PAFAH1B1 Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.194 PAFAH1B1 Zornitza Stark Classified gene: PAFAH1B1 as Green List (high evidence)
Leukodystrophy - paediatric v0.194 PAFAH1B1 Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.193 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAFAH1B1 were set to 31370080; 30568308; 20301752
Phenotypes for gene: PAFAH1B1 were set to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830
Review for gene: PAFAH1B1 was set to GREEN
Added comment: White matter abnormalities are part of the phenotype.
Sources: Expert list